Diese Literaturangaben wurden gesammelt von Ulrike Krempel und Vera Mertens
(Usher-Arbeitskreis der Pro Retina Deutschland)
Es ist beabsichtigt, die Literaturliste ständig zu erweitern und zu vervollständigen.
Dazu bitten wir, uns neue Literaturangaben unter einer der beiden folgenden Adressen
durchzugeben:
Biographische Erfahrungsbericht, Romane, Hilfen zur Schicksalsbewältigung
Medizinische Literatur (überwiegend
deutschsprachig)
Berufliche Aspekte
Soziale Aspekte
Pädagogische Aspekte
Usher-Broschüren der Pro Retina
Usher-Artikel aus
der Zeitschrift "Retina aktuell"
Medizinische und genetische Aspekte (überwiegend englischsprachig)
Blatchford, Claire H.:... aber Freitag hält zu mir.
Oncken Verlag, Haan 1985, 112 S.
Blauensteiner-Stepan, Yvonne: Das stille Jahr.
Kurt Kleber Verlag, Wien 1946.
Bogda, Elisabeth: Die anderen vierzig Jahre. Aus dem Leben eines Taubblinden.
Helmut Bogda, der Verfasser des Buches - Aus meinem Leben. Aufzeichnungen
eines Taubblinden - , steht im Mittelpunkt dieser von seiner Frau nach seinem Tode
verfaßten Fortsetzung.
Verlag Haag + Herchen, 1997, ISBN 3-86137-511-7
Bogda, Helmut: Aus meinem Leben. Aufzeichnungen eines Taubblinden. Haag + Herchen Verlag,
Frankfurt, 1996
Brock, Joan & Derek L. Gill: Mehr als das Auge sieht.
Bertelsmann Club GmbH, Buch Nr. 00201 4
Ching, Lucy: Das mutige Leben einer blinden Chinesin.
Hänssler-Biographie, ISBN Nr.3-7751-2438-1
Diderot, Denis: Briefe über die Blinden für Sehende.
Düren 1949, Paris 1949. Französischer Originaltitel: Lettres sur les aveugles pour ceux
qui voient.
Dyer, Donita: Strahlende Hoffnung.
(Die mit sechs Jahren erblindete Autorin beschreibt ihren harten Lebensweg durch Schule
und Studiengänge bis zur Berufstätigkeit als Ärztin.)
Schulte und Gert Verlag, Aßlar 1983, 192 S.
Green, Hannah: Bevor du liebst, Roman
(Der 25jährige John ist taubblind. Mit bewundernswertem Elan macht er sich daran, mit
möglichst wenig fremder Hilfe ein selbstbestimmtes Leben zu führen. Die spontane junge
Schauspielerin Leda weckt in John Sehnsüchte nach mehr Lebendigkeit in seinem Alltag. Und
sie lernt durch John, neu wahrzunehmen....)
Green, Hannah: Mit diesem Zeichen.
(Liebe, Ehe und Schicksal eines taubstummen Paares.)
Radius Verlag, Stuttgart 1975, 247 S.
Rowohlt Taschenbuch 4869, Reinbek bei Hamburg. Amerikanischer Originaltitel: In this sign. New York 1970.
Goldschmid, Dorothee, Siegenthaler, Hermann: Viele fremde Hände. Einem taubblinden Menschen öffnet sich schrittweise eine Welt. Musikverlag Pan AG, Zürich, ISBN Nr. 3 907073 47 9
Golinski, Edith: Der Blick nach innen
(Erlebnisse einer Blinden) Kiel 1971, 66 S.
Hocken, Sheila: Emma und ich.
Die erstaunlichen Erlebnisse einer jungen blinden Frau mit ihrer klugen Hündin.
Marion von Schröder Verlag, Düsseldorf 1978, 230 S.
Goldmann Taschenbuch 3984, München 1981, 236 S.
Englischer Originaltitel: Emma and I. London 1977
Keller, Helen: Die Geschichte meines Lebens.
(Mit einer Auswahl aus den Briefen der Autorin von 1887 bis 1901 und einer Beschreibung
ihrer Erziehung als blinde und taubstumme Schriftstellerin.)
Stuttgart 1903 und Scherz Verlag, Bern, München und Wien 1955, 240 S.
Keller, Helen: Mitten im Lebensstrom.
Neue Erinnerungen von Helen Keller.
Stuttgart o.J., ca. 1935, 302 S.
Keller, Helen: Meine Lehrerin und Freundin Anne Sullivan.
Stuttgart o.J., ca. 1938, 208 S.
Keller, Helen: Licht in mein Dunkel.
Swedenborg-Verlag-Zürich 1991, 1955, ISBN Nr. 3-85927-139-3
Keller, Helen: Mein Weg aus dem Dunkel
(Neuauflage des Titels: Die Geschichte meines Lebens, s.o.)
Scherz Verlag,1993, ISBN Nr.3-502-18363-5
Krause, Chr.: Wer nicht hören kann, muß fühlen“.
(Sie beschreibt den schwierigen Prozeß, ihre über lange Zeit verdrängte
Schwerhörigkeit zu akzeptieren und auch mit ihr ein erfülltes Leben zu führen.)
Fischer Serie Lebenskrisen - Lebenschancen
Marx, Annemarie: Die heile Insel.
(Lebensbericht einer seh- und hörgeschädigten Pastorin.)
Rauhes Haus Verlag, Hamburg 1975, 179 S.
Pla, Frieda le: Blicke in eine verborgene Welt.
Deutsches Blindenhilfswerk o. J., ca. 1949, 233 S.
Schaumann, Ruth: Das Arsenal
(Die Reflexionen von Grenz - Todessituationen der sechsjährigen an Scharlach ertaubten
Künstlerin ist ein Hochzeitsgeschenk der 25jährigen an ihren Partner, mit dem sie fünf
Kindern das Leben schenkt.) Kerle Verlag, Freiburg 1968, 1190 S.
Schwarz, Hildegard: Mit Träumen leben - Träume einer Erblindeten. Verlag Darmstädter Blätter, Darmstadt 1981, 194 S.
Tesch-Römer, C., Wahl, H.W.: Seh- und Höreinbußen älterer Menschen. Herausforderung
in Medizin, Psychologie und Rehabilitation (Welche Bedeutung haben Seh- und Höreinbußen
für das Erleben und Verhalten der betroffenen Personen?
Welche Handlungsmöglichkeiten stehen betroffenen älteren Menschen, ihrer Umwelt,
professionellen Helfern zur Verfügung, um den negativen Folgen sensorischer Einbußen im
Alter zu begegnen?) ISBN Nr. 3 7985 1008 3, 1996, 250 S.
Tschamper, Irene: Belastung und Bewältigung bei einer progredienten Sehschädigung: Darstellung am Beispiel der Retinitis Pigmentosa. Luzern: Edition SZH/SPC; 1997, ISBN: 3-908263-54-9
Wohmann, Gabriele: Das Handicap, Roman
(Durch einen Unfall wird Sue Speyers Sehvermögen stark beeinträchtigt. Mit dem nahezu
verlorenen Augenlicht ist sie nun auf ihre übrigen Sinne angewiesen, und plötzlich
öffnen sich in ihrem Kopf Freiräume für Phantasien und Wahrnehmungen ...), Bertelsmann
Club, Buch Nr. 02954 6
Fogelberg, Täppas: Bevor es dunkel wird
Ich sammle Bilder für den Rest meines Lebens ...“
(Seit über zehn Jahren leidet Täppas Fogelberg an Retinitis pigmentosa, einer
unheilbaren degenerativen Netzhauterkrankung. Trotz dieser Krankheit ist Täppas Fogelberg
heute einer der bekanntesten Fernseh- und Rundfunkjournalisten in Schweden.)
Bjarnhof, Karl: Das gute Licht
Bertelsmann Verlag, Gütersloh 1958, 318 S., Dänischer Originaltitel: o.A., Verlag
Güldendahl, Kopenhagen
Gohn, Ludwig: Ein Weg zum Glück.
Selbst gegangen und dargestellt.
Van Witsen Verlag, Rotterdam, 1957, 93 S.
Hull, John M. Im Dunkeln sehen. Erfahrungen eines Blinden.
Verlag C.H.Beck München, 1992, ISBN Nr. 3 406 36723 2
Haebler, W.: Mein Dorf zwischen den Wäldern.
(Blind geboren und Lehrer geworden.) Hans Thoma Verlag, Karlsruhe 1965, 146 S.
Haebler, W.: ...Wir haben einen Hund, einen Vater und eine Mutter. Hans Thoma Verlag, Karlsruhe 1967, 159 S.
Haun, Ernst: Jugenderinnerungen eines blinden Mannes.
Stuttgart 1918, 333 S.
Krents, Harold: Mit dem Wind um die Wette. Stuttgart 1976, 216 S. Amerikanischer Originaltitel: To Race The Wind. O. J.
Lusseyran, Jacques: Das wiedergefundene Licht.
(Der im Schulalter erblindete Junge, französischer Widerstandskämpfer und späterer
Literaturprofessor und Familienvater reflektiert sein inneres
Sehen“.)
Verlag Klett-Cotta/dtv 1966, ISBN Nr. 3 423 30009 4
Lusseyran, Jacques: Das Leben beginnt heute (Lusseyran schildert Begegnungen mit Menschen im Konzentrationslager, die ihn lehren, jene innere Freiheit“ zu finden, mit deren Hilfe es ihm gelingt zu überleben.) Verlag Klett-Cotta/dtv, ISBN Nr. 3 423 30083 3;
Mansfeld, F.C.:Die Lichtbringer
Kurt Kleber Verlag, Wien, 1953, 234 S.
Meyer-Auhausen, Otto: Als das Dorf noch meine Welt war.
Fränk.-Schwäb. Heimatverlag, Oettingen 1963
Meyer-Auhausen: Wenn auch das Licht erlosch.
Mein Lebensschicksal. (Ein Fabrikant berichtet.)
Kochler und Amelang, Leipzig 1936
Narbesher, Maximilian: Weg ins Licht.
Verlag Stiftsbuchhandlung, St. Florian 1949
Rupp, H.: Schlag die Hand nicht aus.
Blindsein, mit Blinden leben. (Hinweise - Meinungen - Informationen aus der Sicht eines
betroffenen Pfarrers.)
R. Brockhaus Verlag, Haan 1981, 144 S.
Russel, Robert:: Einen Engel fangen.
(Bericht eines mit fünf Jahren erblindeten Jungen, der heute als
Universitätsprofessor und Familienvater in Amerika lebt.)
Goverts Verlag, Frankfurt 1963, 280 S.
Amerikanischer Originaltitel: To Catch an Angel
Schah-Mohammedi, Abbas: Bis die Nacht vergeht.
Erfahrungen und Erkenntnisse eines Blinden. Denkanstöße für Sehende.
Evangelischer Blindendienst (Hrsg). Berlin Union Press, Haas u. Co. Verlag, Berlin
1981, 40 S.
Smithdas, Robert: Mit Händen ergriffen.
(Ein taubblinder Amerikaner beschreibt sein Leben.)
Engelhorn Verlag, Stuttgart 1960, 333 S.
Stoeckel, Alfred: Von Homer bis Helen Keller.
„Lichtlos und doch lichtvoll‰ dieser Homersatz am Portal der
Schlesischen Blindenunterrichtsanstalt in Breslau veranlaßte den damals 24jährigen,
infolge eines Unfalls mit 16 Jahren allmählich erblindenden Autor, das Leben bedeutender
blinder Persönlichkeiten in der Weltliteratur zu untersuchen.)
Verlag des Deutschen Blindenverbandes e V. Bonn 1984, 313 S.<
Sullivan, Tom, Gill, Derek: Wenn ihr sehen könntet, was ich höre.
Ein Blinder besiegt sein Schicksal.
Herder Verlag, Freiburg 1976, 183 S. Rowohlt Taschenbuch 4395, Reinbek bei Hamburg
1979, 153 S.
Twersky, Jacob: Gesicht in der Finsternis
Drei Brücken Verlag, Heidelberg 1954, 413 S.
Vajda, Albert: Um so heller die Nacht.
(Ein erblindeter Schriftsteller verarbeitet seine Erkrankung und spätere Heilung.)
Walter Verlag, Olten, Freiburg 1975, 216 S. Englischer Originaltitel: Lend me an Eye.
London 1974
Vogel, Robert: Zwischen hell und dunkel.
Wien 1982
Vuillemier, John Friedrich: Der letzte Tunnel
(Die Wandlung eines Mannes, der unvermittelt vor die Aufgabe gestellt wird, sein Leben
als Blinder fortzusetzen.)
Walter Verlag, Wiesbaden 1970, 189 S.
Lucas, Christel: Silke - ein blindes Kind.
Anregungen für Elternhaus und Kindergarten. (Eine Pflegemutter und
Heilpädagogin berichtet.) Kösel Verlag, Stuttgart 1979, 96 S.
Stüssi, Rosemarie: Aufzeichnungen aus dem Leben mit einem blinden Kind. Hans Huber Verlag, Bern und Stuttgart 1982, 137 S. Fischer Taschenbuch, Bd.3295
Wallisfurth, Maria: Sie hat es mir erzählt. (Die Tochter taubstummer Eltern berichtet über ihre Mutter.) Herder Verlag, Freiburg, Basel und Wien 1979, 279 S.
Skorochodowa: Jenseits der Nacht.
Verlag Kultur und Fortschritt, Berlin-Ost 1951
Bodenheimer, Ronald A.: Doris.
Die Entwicklung einer Beziehungsstörung und die Geschichte ihrer Behebung bei einem
entstellten taubstummen Mädchen.
Schwabe und Co. Verlag, Basel und Stuttgart 1968, 91 S.
Düren, T., Hauser, H., Neugebauer, H. (Hrsg.): ... aber sie können nicht sehen.
(Bildband als Anregung und Hilfe im Umgang mit blinden und sehbehinderten Kindern.)
Rheinland Verlag, Köln 1977, 199 S.
Düren, T., Hauser, H., Neugebauer, H. (Hrsg.): Aber sie geben nicht auf. (Lebensgeschichten von Helmut, Kerstin, Martina, Martin, Sabine.) Rheinlad Verlag, Köln 1983, 172 S.
Düren, T., Strehle, W.: Die besten Jahre.
(Sammlung Louis Braille - Briefe“. Frühförderung
sehgeschädigter Kinder. Von betroffenen Eltern sowie von Blinden- und
Sehgeschädigten-Lehrern und Ärzten verfaßte Briefe an Eltern blinder und
sehgeschädigter Kinder.)
Rheinland Verlag, Köln 1979, 351 S.
Johansen, Otto: Aus der Finsternis zum Licht.
(Erling Stordahls Leben für Blinde und Behinderte.)
Ernst Reinhardt Verlag, München und Basel 1973, 232 S.
Loewy, Alfred: Blinde große Männer.
(Fawcett, Rodenbach, Saundersen und Euler, Eberhardt, Planck, Plateau, Javal, Huber,
Händel.)
Kommissionsverlag Rascher, Zürich o. J., m.E. ca 1980, 73 S.
Pause, Walter: Das Leben triumphiert. Helen Kellers Schicksal. Bertelmann Verlag, Bielefeld 1957, 317 S.
Reuss, Alexander: Verlorenes Licht
Eugen Salzer Verlag, Heilbronn 1933
Ruderisch, Gustav: Ist der Weg auch weit ...
Kindler Verlag, München 1956
Wanecek, Ottokar: Licht im Dunkel.
(Blinde Musiker einst und jetzt.) Wien 1960
Laborit, Emanuelle: Der Schrei der Möwe
(E. Laborit beschreibt ihre Kindheit und Jugend als Gehörlose.) Bastei-Lübbe-Verlag,
ISBN Nr.: 3 40 4 61340 X
Merker, Hannah: Listening
(Eine Frau erkundet ihre verstummende Welt. H. Merker, eine Amerikanerin, ertaubt mit
36 Jahren nach einem Ski-Unfall.)
Klein Verlag, ISBN Nr. 3 89521 027 7
Herzogenrath: Mein Weg aus der Stille.
Erfahrungsbericht zum Cochlear Implant 1992, Selbstverlag,
ISBN Nr. 3 9804182 0 0
Deutsche Cochlear Implant Gesellschaft, Hannover, Schnecke“ Verbandszeitung, zweimal jährlich
DSB Report, Verbandszeitung des Deutschen Schwerhörigenbundes e.V. 10117 Berlin, Schiffbauerdamm 13, sechsmal jährlich
Tinnitus-Forum, Verbandszeitung der Tinnitus Liga, Wuppertal, viermal jährlich
Christl, Adelheid: Gestern hörend - heute taub.
Die Situation ertaubter Erwachsener. Matthias-Grünewald-Verlag, Mainz 1997, 115 S.
ISBN Nr. 3 7867 2035
Möhrmann, Renate, Würzbach Natascha (Hrsg.):
Krankheit als Lebenserfahrung
(Weibl. Erfahrung von Krankheit als lebensverändernde und persönlichkeitsprägende
Krise wird in sechzehn Erlebnisberichten von Frauen dargestellt. Darin auch je ein
Erfahrungsbericht über Seh- bzw. Hörbehinderung.) Fischer Verlag, Die Frau in der
Gesellschaft, 1988, ISBN Nr. 3 596 24707 1
Bavcar, Evgen: Das absolute Sehen (E.Bavcar, der Blinde, sieht die Dinge anders. Sehen und Nichtsehen stehen im Mittelpunkt seiner Erzählungen.) edition suhrkamp Bd. 909, ISBN Nr. 3 518 11909 5
Krug, Hans-Jürgen (DRPV): Über die Konstruktion von Wirklichkeiten bei Usher-Betroffenen. (Deutsche Fassung eines Vortrages auf dem 9. Treffen der EUSSG - European Usher Syndrom Study Group in Madrid, Juli 1997)
Krug, Erich: Charakter und Schwerhörigkeit
(Es handelt sich um die Wiederveröffentlichung einer Dissertation aus dem Jahre 1949,
die insbesondere für die Schwerhörigenpädagogik von grundlegender Bedeutung war - und
noch heute ist -, aber in Vergessenheit zu geraten drohte.) Edition Harmsen, Heidelberg
1993, ISBN Nr. 3 928836 03 X
Lübke, Norbert: Die Krankheit ist nur ein Teil meines Lebens“ Krankheitsbewältigung in Selbsthilfegruppen. Ergebnisse teilnehmender Beobachtung in der Retinitis-Pigmentosa-Regionalgruppe Nord. Verlag für Akademische Schriften, VAS, 1995, ISBN Nr. 3 88864 092 X
Zrenner, K.Rüther, E., Apfelstedt-Sylla: Retinitis pigmentosa.
Klinische Befunde, molekulargenetische Ergebnisse und Forschungsperspektiven. In:
Ophthalmologe (1992) 89; 5 - 21, Springer Verlag. DRPV Sonderdruck Nr. 104
Gerding, Busse: Tapetoretinale Dystrophien: Relative Incidenz und Erbgangsverteilung, Der Ophthalmologe, 1993
Brunsmann, F.: Chorioideremie, Inaugural-Dissertation, Münster 1992
Lund O.E., Waubke, T.N. (Hrsg.) Ophthalmologische Rehabilitation, Enke, Stuttgart ,1992
Medizinische und technische Aspekte
Lehnhardt, Battmer, Hirshorn: Cochlear Implant. Eine Hilfe für beidseitig Taube. Springer Verlag, Berlin 1987
Lenarz, Lehnhardt, Battmer: Cochlear Implant bei Kindern.
Thieme, Stuttgart 1994.
Treue, Claußen: Die Hörschädigung, kein unabänderliches Schicksal? Informationen zu
den Cochlear Implantaten.
Deutscher Schwerhörigenbund, Berlin 1990
Medizinische und psychologische Aspekte
Bunck, D.: Usher-Syndrom, eine erbliche Hör-Sehschädigung.
In: Hörgeschädigtenpädagogig, Nr. 41, 3/1987, S. 150-154
Cernca, P., Marculescu, A., Cornca, I.: Pigmentretinopathie, Taubheit und Sprachstörungen. In: Klin. Mbl. Augenheilkunde, Nr. 161, 1972, S. 588-592;
De Leuw, L.: Students with Usher-Syndrom, Sint-Michielsgestel 1981
Vernon, M. (Hrsg.): Usher’s Syndrom - The Personal, Social, And Emotional Implications. In: American Annals Of The Deaf, Vol 123, No. 3, 1978, S.357-422.
Vernon, M.: Psychological And Social Dimensions Of Usher’s Syndrom, Westminster 1976.
Vernon, M: Usher syndrom: Awareness and Education Project, Westminster (ohne Jahresangabe), re-issued by SENSE.
Vernon, M.:Usher syndrom - Deafness and progressive blindness. Clinical cases, prevention, theory and literature survey. In: J. Chronic Dis. 22, 1969, S. 133-155
Well, D., Blanchard, S., Kaplan, J.:Defective myosin VIIA gene responsible for Usher syndrom type 1B. In: Nature, Vol.374, 1995, S. 60 - 64
Ahrbeck, B.: Gehörlosigkeit und Identität. Probleme der Identitätsbildung Gehörloser aus Sicht soziologischer und psychoanalytischer Theorien, Hamburg 1992
Annala, L. Anderson, H., Roehrig, A.: Three Professionals with Usher’s Syndrom Speak out, Kopenhagen, 1976
Fink, Verena: Schwerhörigkeit und Spätertaubung.
Eine Untersuchung über Kommunikation und Alltag hörgeschädigter Menschen
(Dissertation einer Selbstbetroffenen)
Verena Fink, ars una- Verlagsgesellschaft Neuried, Bd. 34 Deutsche Hochschuledition,
490 S., ISBN 3 89391 0343
Wisotzki Karl-Heinz: Altersschwerhörigkeit, Grundlagen - Symptome -Hilfen,
Verlag W. Kohlhammer, Stuttgart, Berlin, Köln, 1996, 263 Seiten, zahlreiche
Abbildungen und Grafiken,
ISBN 3 17 014019 1, DM 39,80
Bundesarbeitsgemeinschaft für Behinderte: Kommunikation zwischen Partnern, Blinde - Sehbehinderte - Taube, Düsseldorf, 1990
Bothe, S.: Soziale und berufliche Rehabilitation Spätsehgeschädigter, Zeitschrift praktische Augenheilkunde 12, 27 - 34, 1991
Brunsmann, F., Gizycki, R.v.: Retinitis Pigmentosa-Patients fight for sight, Pergamonn Press, 1988. (Eine Sammlung von Vorträgen und Workshopergebnissen zu den sozialen Fragen der RP vom 3. IRPA Kongress in Bad Nauheim 1986).
Deutsches Studentenwerk e.V.: Behinderte studieren. Praktische Tips und Informationen der Beratungsstelle für behinderte Studienbewerber und Studenten des Deutschen Studentenwerkes e.V., 1992
Bundesarbeitsgemeinschaft hörbehinderter Studentinnen und Absolventinnen (BHSA),
Hinter der Hochstätte 2 a, 65239 Hochheim, Tel.: 06146-7958
Studienführer. Ein Handbuch für Hörbehinderte, Hochheim
Universität Heidelberg: Zum Usher-Syndrom, (ca 100 Seiten)
Universität Leipzig: Leben mit Handicap: darin ist die RP- und die Usher-Problematik eingearbeitet (5 Seiten)
Universität München: RP und Hörschädigung. Das Usher-Syndrom (ca. 82 S.)
BHSA-Studienführer - ein Handbuch für Hörgeschädigte
Herausgeber: Bundesarbeitsgemeinschaft Hörbehinderter Studenten und Absolventen
Geschäftsstelle: Hinter der Hochstätte 2a, 65239 Hochheim
BBW Berufsbildungswerke: Rehabilitation junger Menschen mit Behinderungen.
Bezogen werden kann diese Publikation über den Lambertus-Verlag, Wölflinstr. 4, 79104
Freiburg, Tel.: 0761/68 25-25, Fax: 37064, ISBN 3 7841 0726 5
Der Bundesminister für Arbeit und Sozialordnung BMA (Hrsg.):
Berufsförderungswerke. Einrichtungen zur beruflichen Eingliederung erwachsener
Behinderter.
Berufsförderungswerke: Einrichtungen zur beruflichen Eingliederung jugendlicher
Behinderter.
Deutscher Blindenverband e.V. (DBV): Merkblatt für Blinde und hochgradig
Sehbehinderte“.
Bismarkallee 30, 53173 Bonn, Tel.: o228-354037
Datenbank REHADAT,
über : Institut der Dt. Wirtschaft, Gustav-Heinemann Ufer 84 - 88, 50968 Köln. Herr
Hecht: Tel.: 0221 - 37655-43. (Diese Datenbank zur beruflichen Rehabilitation liegt auf CD
- ROM vor und umfaßt u.a.: Praxisbeispiele, Technische Hilfsmittel, Behindertenrecht,
Adressen u. a. Die Datenbank enthält z. B. 192 Beispiele zur beruflichen Rehabilitation
im Bereich Sehbehinderung/Blinde (Stand: Juli 1993)
Weitere Datenbanken für Behinderte sind:
SODAT Sodat e.V., An der B 5 Nr. 14, 25923 Braderup
Handicap II, Univ. Hamburg, Institut für Soziologie, Sedanstr. 13, 20146 Hamburg
THB - Technische Hilfen für Behinderte:
Stiftung Rehabilitation, Postfach 101409, Heidelberg
Pfister, Curdin und Toni Lipp: Das Büro von morgen als Arbeitsplatz für Blinde und Sehbehinderte, Arbeitsbericht - Projektphase II, 1. Fassung; Bern, Basel 1988
Bundesarbeitsgemeinschaft Hilfen für Behinderte (BAGH):
BAGH, 40215 Düsseldorf, Kirchfeldstr. 149, Tel.: 0211-310060.
Die BAGH ist in Landesarbeitsgemeinschaften unterteilt.
Die Rechte behinderter Menschen und ihrer Angehörigen,
20. Auflage, 1993. Schriftenreihe der BAGH, Bd. 103, DIN A 5, Broschüre, 236 S.. (Ein
Standardwerk, das Behinderten einen guten Überblick gibt.)
Bundesarbeitsgemeinschaft für Rehabilitation (BAR):
Wegweiser - Eingliederung von Behinderten in Arbeit, Beruf und Gesellschaft. 7. Auflage 1992, 90 S., DIN A 4. (Diese Broschüre gibt eine sehr gute Übersicht über das Reha-System. Weitere Schriften zur berufl. Rehabilitation können angefordert werden.)
Der Bundesminister für Arbeit und Sozialordnung BMA (Hrsg.):
“Leitfaden für Behinderte“, jeweils aktuelle Auflage.
Rochusstr. 1, Postfach 53123 Bonn. (Enthält zahlreiche Gesetzestexte im Wortlaut.)
Auch andere Hauptfürsorgestellen bzw. Landeswohlfahrtsverbände haben
Informationsmaterial herausgegeben, z.B.:
Arbeitskammer des Saarlandes (Hrsg.):
Schwerbehinderte und ihr Recht
Behörde für Arbeit, Gesundheit und Soziales der Freien und Hansestadt Hamburg: Der Ratgeber für Behinderte in Hamburg
Hauptfürsorgestelle Berlin: Hilfen zur berufl. Eingliederung von Schwerbehinderten
Hauptfürsorgestelle des Landschaftsverbandes Westfalen-Lippe, Argrendorferstr. 26, 48144 Münster (Hrsg.): Ein ausführlicher Berater für Behinderte
Arbeitsgemeinschaft der Deutschen Hauptfürsorgestellen (Hrsg.): Das ABC der Behindertenhilfe, Köln 1992
Bundesanstalt für Arbeit (Hrsg.): Berufliche Eingliederung Behinderter, Nürnberg, jeweils aktuelle Auflage
Hoffmann, Hans-Joachim: Steuerratgeber für Behinderte. Beck-Rechtsberater im dtv, München, jeweils aktuelle Auflage
DRPV Sonderdruck, Nr. 108, 8/96
Anregungen und Tips für die Ausbildung von Usher - Betroffenen sowie Hilfen bei
fortschreitender Hör- und Sehschädigung
(Darin sind auch viele weitere Adressen und Publikationen angegeben.)
Baaske, K.-H-, Bunck, D., Claußen, H.: Empfehlungen für den Unterricht in der Schule für Taubblinde, Hrsg.: Deutsches Taubblindenwerk, Hannover 1987.
Lehnhardt, Bertram: Rehabilitation von Cochlear Implant Kindern. Springer Verlag, Berlin 1991
Claußen, Jussen: Chancen für Hörgeschädigte. Hilfen aus internationaler Perspektive. Ernst Reinhard, München 1991.
Plath: Innenohr-Implantate, Materialsammlung vom 3. multidisziplinären Kolloquium der Geers-Stiftung. DVFVR, Dortmund 1986
Plath: Frühkindliche Hör-Spracherziehung. Materialsammlung vom 6. multidisziplinären Kolloquium der Geers-Stiftung. Bonn-Bad-Godesberg 1992
Calcagnini-Stillhard: Das Cochlear-Implant. Eine Herausforderung für die Hörgeschädigtenpädagogik, Edition SZH, Luzern 1994
Burian, Eisenwort, Pfeifer: Hörtraining. Ein Trainingsprogramm für
Cochlear-Implant-Träger und Hörgeräte-Träger,
Thieme, Stuttgart 1986
Burian, Eisenwort, Viehauser: Kommunikationstraining,
Thieme, Stuttgart 1990
Herzogenrath: Hörtraining für CI-Träger. Deutsche Cochlear Implant Gesellschaft,
Hannover 1995
1. DRPV-Info-Serie Nr.0.: Was ist Retinitis Pigmentosa? DIN A 5 - 64 S.
2. DRPV-Info-Serie Nr.1: Retinitis Pigmentosa und Augenärzte
DIN A 5 - 16. S.
3. DRPV-Info-Serie Nr.4: Das Usher-Syndrom DIN A 5
4. DRPV-Broschüre: Retinitis Pigmentosa - Forschung in Deutschland; Programme -
Projekte - Perspektiven 1993 DIN A 5 - 120 S.
5. DRPV-Broschüre: Grauer Star bei Retinitis Pigmentosa -
1990 DIN A 4 - 102 S.
6.jetzt neu! Pro Retina Sonderdruck Nr. 108, 3/98, Das Usher-Syndrom, Hör- u.
Sehbehinderung
7.Pro Retina Sonderdruck: Das Usher-Syndrom , von Mary Guest überarbeitet von
Christina Fasser
Berichte zum Thema "Usher-Syndrom" in der DRPV-Zeitschrift
"RP Aktuell" (erscheint vierteljährlich)
Das Usher-Syndrom, Heft 12, Seite 27
Das Usher-Syndrom, eine Hör- und Sehbehinderung (Klaus Justus),
Heft 43, Seite 17, 1992
Bericht aus der Werkstatt des Arbeitskreises RP/Usher,
Heft 43, Seite 19, 1992
Das Usher-Syndrom, - kurzes Resümee eines Vortrages von Mary Guest, gehalten auf der Mitgliederversammlung der DRPV am 17.Juli 95, Heft 57, S.8, 1995
Berufsmöglichkeiten für Hör-/ Sehgeschädigte ,
Heft 55, S. 26, 1995
Kommunikation mit Usher-Betroffenen,
Heft 51, S.26, Teil 1 und Heft 52, S.19, Teil 2, 1994
Usher-Literatur aus den USA:
1. Dorothy H. Stiefel: The Madness of Usher's. Coping with Vision and Hearing Loss
(Usher-Syndrom Type II). Corpus Christi, Texas 1991, 78 S., Großdruck (wahlweise auch als
Kassette).
ISBN 1 879518 06 6
Erhältlich für $ 13 bei The Business of Living Publications, P.O. Box 8388, Corpus
Christi, TX, 78468-0388, USA
2. About US. Zeitschrift von und für Betroffene mit Usher-Syndrom II (Hrsg. Dorothy H.
Stiefel)- Erscheint vierteljährlich.
Zu beziehen bei: Vision Screening Project, 5801 Southwood Drive, Bloomington, MN
55437-1739. Jahresabo für $ 20.
3. Usher Family Support. Zeitschrift für Familien mit Usher-Betroffenen. Erscheint
vierteljährlich. Zu beziehen bei: Usher Family Support, c/o Helen Anderson, 4918 42nd
Avenue South Minneapolis, MN 55417. Jahresabo für $ 20
Diese drei Literaturangaben sind in Heft 52, S.23, 1994, inhaltlich erläutert.
Innenohrschädigende Medikamente, Genussmittel und Umweltgifte (Gisela Mätzke), Heft 52, S. 24, 1994
Bericht über das 7. Treffen der EUSSG (European Usher Syndrome Study Group), Potsdam, Heft 49, S.26, 1993
Bericht über das 8. Treffen der EUSSG, Schloß Dronninglund, Dänemark, Heft 57, S. 30, 1995
Bericht über das 9. Treffen der EUSSG in Madrid (H.J. Krug),
Heft 65, S.26
Usher- Arbeitskreis: Berichte aus der Werkstatt des Arbeitskreises,
Heft 44, S.35,1992, Heft 59, S. 23, 1996, Heft 65, S.24, 1997
Usher-Fragebogenaktion, Auswertung, Heft 59, S.25, 1996
Usher-Hilfsmittel, Festbeträge der Kassen, Heft 54, S. 33, 1994
Usher-Syndrom,Genlokalisation, Heft 58, S. 26
Hörgeräte, Kostenübernahme: Heft 61, S.29, 1996
Leben mit dem Usher-Syndrom, Heft 61, S.30, 1996
Usher-Broschüren in englischer Sprache
Unter dieser Adresse können die nachfolgend aufgeführten - sehr informativen - Usher-Broschüren bestellt werden:
Mary Guest - Usher Services, Sense, 11 - 13 Clifton Terrace, Finsbury , London N 4 35 R, Tel.: 0171-272-7774, Fax: 0171-272-3862/6012
1. What is Usher? Price: $ 2,50
2. Usher and You $
6,95
3. Usher in the Familiy, part 1, $ 6,45
4. Usher in the Familiy, part 2, $ 6,45
5. Usher in the Deaf Community Poster, $ 2,25
6. Usher Genetics Book, $ 2,75
7. Usher Collection, $ 7,50
8. Usher Video, $ 25,00
Stiefel, Dorothy H.: The madness of Usher's: coping with vision and hearing loss
(Usher-Syndrom Typ II)
ISBN 1-87951-806-6, Staats- und Universitätsbibliothek; Von Melle-Park 3; PLZ 20146 Hamburg (Keine Fernleihe möglich!)
Duncan, Earlene; Prickett, Hugh; Finkelstein, Dan; Vernon, MacCay; Hollingsworth, Toni:
Usher's syndrome: What it is, how to cope, and how to help, 1988, 93 S., ISBN:
0-398-05481-9, Staats- und Universitätsbibliothek; Von-Melle-Park 3; PLZ 20146 Hamburg,
keine Fernleihe möglich!
Hier sind Bücher aufgeführt, die nicht konkret die Hör-/Sehbehinderung zum Inhalt
haben, worin sich aber Usher-Betroffene in ihrer Behinderung wiedergefunden haben, bzw.
Bücher, aus denen sie in schwierigen Situationen wieder Mut und Kraft schöpfen konnten.
Canfield, Jack; Hansen, M. V.: Hühnersuppe für die Seele, Geschichten, die das Herz
erwärmen, Goldmann Taschenbuch,
ISBN 3-442-13209-6, DM 12,90
Canfield, Hansen: Noch mehr Hühnersuppe für die Seele, Goldmann Taschenbuch, ISBN 3-442-13239-8, DM 14,90
Nadolny, Sten: Die Entdeckung der Langsamkeit,
Piper Verlag, ISBN 3-492-20700-6,
"Der Langsame sieht mehr!" Über die Kunst der Langsamkeit, die dem Rhythmus des Lebens Sinn verleiht
Egli, Rene: Das LOLA-Prinzip, Die Vollkommenheit der Welt
Editions D'olt, ISBN 3-9520606-0-7
"Es handelt sich hier um universelle Lebensgesetzmäßigkeiten, denen ausnahmslos
jeder Mensch unterworfen ist. LOLA ist die Abkürzung für: LO = Loslassen, L = Liebe, A =
Aktion/Reaktion. Das LOLA - Prinzip ist die radikalste Umsetzung des ökonomischen
Prinzips und zwar deshalb, weil es sich hier um die Supraleitung im Leben eines Menschen
handelt. Das bedeutet: Das LOLA - Prinzip zeigt, wie sie jedes Ziel mit weniger Aufwand
und Zeit erreichen als auf herkömmliche Art."
Laborit, Emmanuelle: Der Schrei der Möwe,
Bastei Lübbe Verlag, ISBN 3-404-61349-X, DM 12,90 Emmanuel ist taub. Ihre frühe Kindheit ist geprägt von dem Gefühl, durch eine transparente, undurchdringliche Mauer von der Welt ausgeschlossen zu sein. Erst als sie die Gebärdensprache erlernt, wird es ihr möglich, zu kommunizieren. Trotz zahlreicher Schwierigkeiten gelingt es ihr, das Leben als Gehörlose zu meistern.
Price, Reynolds: Ein zweites Leben - Die Überwindung der Krankheit, Insel Verlag, ISBN
3-458-16727-7,
Ein zweites Leben ist mehr als eine Geschichte von der Überwindung des Krebses - es ist auch die Geschichte der Verwandlung eines Mannes, der Meisterung einer Lebenskrise. Dieses Buch gibt tiefe und intime Einblicke in einen immer noch weitgehend tabuisierten Bereich, und es ist eine Ermutigung für all jene, die betroffen sind.
Bill, Irwin: Dunkle Nacht am hellen Tag. Ein Blinder auf dem Appalachian Trail.
Goldmann Verlag, ISBN: 3-442-12527-8, DM 16,90
Die unglaubliche Geschichte des Blinden Bill Irwin, der alleine mit dem Hund mehr als 3000 km auf dem Appalachian Trail gewandert ist, durch 14 Staaten der USA, über Berge und Flüsse, in Hitze, Kälte, Regen und Schnee. Der Trail, ebenso berühmt wie schwierig, wird für Bill zum Prüfstein, zum Weg der Selbstüberwindung und Sinnfindung. Ein Bericht über Mut und Durchhaltevermögen, über die Liebe zur Natur, zu den Menschen und vor allem zu seinem treuen Hund Orient.
Redfield, James: Die Prophezeiungen von Celestine
Heyne Verlag, ISBN: 3-453-08200-1, DM 38,--
Dieses Buch handelt von der Suche nach einer über 2000 Jahre alten, geheimnisvollen
Handschrift, die sich in Peru befinden soll, eine Handschrift, die neun grundlegende
Einsichten in unser gegenwärtiges Dasein enthält sowie spektakuläre Wege in eine
spirituelle Zukunft aufzeigt. Die Suche erweist sich jedoch als ein gefährliches
Abenteuer, da Kirche und Staat die Veröffentlichung des Manuskripts mit allen Mitteln zu
verhindern suchen. Denn die Handschrift enthält Erkenntnisse, die zu einer Transformation
des gesellschaftlichen Bewußtseins führen.
Die "Prophezeiungen von Celestine" sind ein Roman, eine Abenteuergeschichte und
ein Buch voller Erkenntnisse in einem. Der Erzähler, ein Amerikaner, erfährt durch
Zufall von der Handschrift und begibt sich auf die abenteuerliche Suche nach diesem
geheimnisvollen Manuskript. Seine Reise führt ihn zu den Höhen der Anden und in den
undurchdringlichen Regenwald Perus. Bedroht und verfolgt, stellt er den Sinn und Zweck
seiner abenteuerlichen Reise immer wieder in Frage, doch die Umkehr von dem einmal
eingeschlagenen Weg scheint unmöglich. Er lernt, Zufällen eine tiefere Bedeutung zu
geben, Ereignisse in seinem Leben zueinander in Beziehung zu setzen und schließlich seine
alten Verhaltensmuster zu überwinden und seine wirkliche Lebensaufgabe zu erkennen. Nach
und nach gelangt er so zu einem neuen, aufregenden Bild menschlicher Existenz. Am Ende
seiner Reise kommt er zu den Ruinen von Celestine, wo sich ihm in der letzten Erkenntnis
das neue Zeitalter offenbart. Die "Prophezeiungen von Celestine" treffen den
Nerv unserer Zeit. Sie bringen Licht in eine Welt, in der immer mehr Menschen nach neuen
Perspektiven suchen und nach Antworten nach dem Sinn des Lebens.
Körner, Heinz: Johannes,
Lucy Körner Verlag, ISBN 3-922028-00-4, DM 24,-
In einfachen, klaren und präzisen Worten schildert Heinz Körner die Begenung eines
jungen Angestellten mit Johannes, einem geheimnisvollen alten Mann. Diese Begegnung, die
unter spannenden und äußerst mystischen Umständen stattfindet, gerät für den jungen
Mann zum Zusammenbruch der Scheinwelt aus lauter Lügen und Kompromissen, die wir alle um
uns herum aufgebaut haben. Ihm wird bewußt, wie sehr er und seine Mitmenschen in ihrer
Feigheit gefangen sind, in einer Feigheit, die alle an der Entwicklung ihrer Fähigkeiten
behindert. Seine Lügenwelt bricht zusammen, und er muß schmerzlich erkennen, daß er mit
all seinen progressiven Ideen nur ein Ziel verfolgt hat: sich selbst zu verstecken.
Konkrete und realistische Vorschläge zur Verbesserung seiner persönlichen Situation
machen JOHANNES zu einer Art Therapie, die jeden an sich selbst interessierten Leser
fesseln und treffen wird.
Bauby, Jean-Dominique: Schmetterling und Taucherglocke,
Paul Zsolnay Verlag, ISBN 3-552-04869-3, DM 24,--
Er war 43 Jahre alt, Vater zweier Kinder und ein erfolgreicher Redakteur, als ihn am 8.
Dezember 1995 ein Gehirnschlag all seiner bisherigen Lebensmöglichkeiten beraubte. Von
diesem Tag an blieb er vollständig gelähmt, unfähig zu sprechen, auch nur ein Glied zu
rühren oder zu schlucken, und seine einzige Möglichkeit, sich verständlich zu machen,
war das Blinzeln mit einem Auge. Fünfzehn Monate später beendete er sein Buch, das er
allein mit seinem linken Augenlid diktiert hatte. Es ist ein einzigartiges Dokument; zum
ersten Mal berichtet ein Opfer des Locked-in-Syndroms, wie die Krankheit in Fachkreisen
heißt, was in einem Menschen vorgeht, der äußerlich zur Statue erstarrt, doch geistig
quicklebendig geblieben ist. Wie einer sich fühlt, den die Krankheit mitten aus dem
aktiven Leben reißt und den die anderen, so sagt er selbst, nur noch als
"Zombie" oder als eine Art "Gemüse" betrachten. "Das Opfer des
Locked in Syndroms ist wie ein Mutant, der sein früheres Selbst abschütteln muß, um
wiedergeboren zu werden", sagt Bauby in einem Interview kurz vor seinem Tod zu Eric
Orsenna. "Die täglichen Sorgen sind ausgelöscht, und ersetzt durch die einzige
Frage, die zählt: kann man im Zustand vollkommener Verstümmelung leben?" Daß und
wie er es konnte, hat Bauby in seinem Buch gezeigt. Die Krankheit hat ihn zu einem
Schriftsteller gemacht, der nicht nur mit bewundernswertem Humor seine eigene Situation
analysiert, sondern die Phantasie und das Schreiben auch als das beste Antidot begreift.
Schmetterling und Taucherglocke ist ein Akt der Selbstbehauptung des Geistes angesichts
der totalen physischen Niederlage - eine "Reflexion über den Sinn des Lebens"
(Yann Queffelec).
"Ich bewundere dieses Werk mehr als die Tapferkeit, mit der es geschrieben wurde.
Nicht allein die Willensleistung zählt, es ist ein Stück Literatur entstanden, das
erkundet, was letztendlich bleibt, wenn nur noch das Wesentliche bleibt - das Leben
selbst." (Eric Orsenna)
Meditationsbücher
Heyne Verlag:
1.Licht in der Nacht, ISBN 3-453-03618-2, DM 12,80
2.Tage der Heilung, Tage der Freude, ISBN 3-453-04376-6, DM 12,80
3. Denk dich frei, Anne Wilson Schaef ISBN 3-453-12931-8, DM 14,80
4. Kraft zum Loslassen, Melody Beattie, ISBN 3-453-04765-6,
DM 24,80
Meditationsbücher für Frauen
Heyne Verlag:
1. Jeder Tag ein neuer Anfang, ISBN 3-453-02850-3, DM 16,80
Scherz Verlag:
1. Mitten im Leben, Maureen Brady, ISBN 3-502-15067-2,
2. Ruhe finden, Amy E. Dean, ISBN 3-502-15140-7
De Saint-Exupery, Antoine: Der kleine Prinz
ISBN 3-453-02614-4
Krahe, Susanne: Blinden-Blick, Reisen in das beschädigte Leben, Patmos Verlag, ISBN
3-491-72354-X
Susanne Krahe, geb. 1959. Eine plötzliche Erblindung beendet die wissenschaftliche
Laufbahn an der Universität Münster. Sie lebt als freie Schriftstellerin in Unna.
Die Geschichten dieses Buches führen den Leser in die Tabuzonen der Gesellschaft: auf Intensivstationen, in Krankenzimmer, Pflegeheime und Operationssäle. Sie laden sie ein, dorthin zu schauen, wohin man gewöhnlich nicht schaut: in die allmählich leerer werdenden Hinterstübchen einer Alzheimer-Patientin oder auf den Stumpf eines beinamputierten Mädchens. Und sie führen Modelle heilsamer und unheiliger Beziehungen zwischen Behinderten und Nichtbehinderten vor. Die Thematik von Pflegegesetz und Hilfsdiensten, von Organtransplantationen, Gerätemedizin und Euthanasie macht die vorliegenden Texte zu originellen Beiträgen der aktuellen medizinischen Diskussion.
Schah-Mohammedi, Abbas: Erzähl mir etwas von Dir
Evang. Blindendienst Berlin (mit dem Sinn: ...wer Gott im Dunkeln sucht, findet ihn im
Licht.)
Sacks, Oliver: Stumme Stimmen
Rowohlt-Verlag, Taschenbuch, DM 12,90
Im Zentrum des Buches steht die visuelle, räumliche Gebärdensprache der Gehörlosen,
eine differenzierte, der Lautsprache ebenbürtige Ausdrucksform, die eine andere Art zu
denken, eine eigene Kultur hervorgebracht hat. Um sie zu erforschen, bricht Sacks zu einer
"Reise" auf: „Sie führte mich zu den Gehörlosen und ihren Familien, zu
den Gehörlosenschulen und -hochschulen, nach Martha's Vinsyard, einer Insel, einer Insel,
wo es früher einmal erbliche Taubheit gegeben hat und wo alle - Gehörlose wie Hörende -
die Gebärdensprache beherrschten, sie führte mich zu engagierten Wissenschaftlern, die
sich mit der Gebärdensprache und den Lebensbedingungen der Gehörlosen befassen.“
"Stumme Stimmen" ist ein Pionierwerk, dessen Forderung unüberhörbar ist: den Gehörlosen die Aufmerksamkeit zu widmen, die ihnen gebührt.
Sacks, Oliver: Die Insel der Farbenblinden
Rowohlt-Verlag, DM 42,-- (Das Buch soll demnächst als Taschenbuch erscheinen und wird
daher im Preis günstiger.)
Meueler, Erhard: Wie aus Schwäche Stärke wird
Rowohlt-Verlag, Taschenbuch, Vom Umgang mit Lebenskrisen
Medizinische und genetische Aspekte
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Adato, et al.: (1996) Usher syndrome in Jewish Moroccan families. Cellular Pharmacology
3, (4): 231-236
Admiral, A.: Rare genetic syndromes associated with visual and hearing defects. Deaf-Blind Education 1989, July-Dec., 14 -17
Alberth B., Balint A.,Kosa A.: Audiometrische Untersuchungen an Kranken mit Retinitis
Pigmentosa.
Klin. Monatsbl. Augenheilkunde 1958, 132, 797 - 806.
Alström C.H., Hallgren B., Nilsson L.B., Asander H.:
Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness.. Acta Psychiatr. Neurol. Scand. 1959, 43, suppl. 129.
Ammann F., Klein D., Franceschetti A.: Genetic and Epidemiological Investigations on Pigmentary Degeneration of the Retina an Allied Disorders in Switzerland. J. Neurol. Sci. 1965, 2,2, 183-196.
Andeasson S.O.L., Ehinger B.: Electroretinographic diagnosis in families with X-linked retinitis pigmentosa. Acta Ophthalmologica 1990, 68, 139-144
Andeasson S.O.L., Ehinger B., Abrahamson M., Fex G.:
A six-generation family with autosomal dominant retinitis pigmentosa and a rhodopsin gene mutation/ Arginine-135-Leucine/. Ophthalmic Paedriatrics and Genetics 1992, 13, 3, 135-153
Ayyagari et. al.: (1995) Fine mapping of the usher syndrome type I c to chromosome 11p14 and identification of flanking markers by haplotype analysis. Mol. Vis. 1:2
Ayyagari et al. 1996: Constraction of a YAC contig encompassing the usher syndrome type 1 c and familial hyperinsulinism loci on chromosome 11p14-15.1 Genome research Juni 1996 (6), 504-14
Barrong et al. 1992: Ultrastructure of Connecting cilia in different forms of RP. Arch. Ophthalmol. 110, 706-708
Bonneau et al (Kaplan): Usher syndrome type 1 associated with bronchiectasis and immotile nasal cilia in two brothers.
Belal A., Jr.: Usher's syndrome/ Retinitis pigmentosa and deafness.
A temporal bone report. J. Laryngol. Otol. 1975, 89, 175-181.
Berson E: L:, Gouras P., Gunkel R. D. Myrianthopoulos N. C.:
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Berson E. L., Rosner B., Sandberg M.A., Weigel-DiFranco C., Dryja T.P.: Ocular Findings in Patients with Autosomal Dominant Retinitis Pigmentosa and Rhodopsin, Proline-347-Leucine. Am. J. Ophthalmol. 1991, 111, 614-623.
Bird A. C.: X-linked retinitis pigmentosa.
Brit. J. Ophthal. 1975, 59, 4, 177-199
Bird A. C. : Investigation of desease mechanisms in retinitis pigmentosa. Ophthalmic Paedriatrics and Genetics 1992, 13, 2, 57-66
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Chagnon, Y.C. & Bouchard, C. (1996). Genetics of obesity: advances from rodent studies. TIG 12, 441-444.
Chaib et al (Kaplan, Petit) 1997: A newly identified locus for Usher syndrome type 1,
USH 1E, maps to chromosome 21q21.
Human Mol. Genetics 6 (1), 27-31
Cremers et al (Ropers) 1995: Mapping and cloning hereditary deafness genes. Current opinion in genetics and development, 5, 371-375.
Denton M.J., Chen J-D., Serravalle S., Colley P.,Halliday F.B., Donald J.: Analysis of linkage relationships of X-linked retinitis pigmentosa with thr following Xp loci: L1.28.OTC, 754, XJ-1, 1, pERT 87, and C7. Hum. Genet. 1988, 78, 60-64.
Doty, Richard L. (1996): Olfactory loss in Usher Syndrome: Another sensory deficit? Am.
J. Medical Genetics 64, 602-3
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Eudy et al (Kimberling) 1997. Isolation of a novel human homologue of the gene conding for echinoderm microtubule associated protein (EMAP) from the usher syndrome type 1A locus at 14Q32.
Evans, K.L., Fantes, J., Simpson, C., Arveiler, B., Muir, W., Fletcher, J., von Heyningen, V., Steel, K.P., Brown, S D. M., St. Clair, D. & Porteous, D.J. (1992/3?): Human olfactory marker protein maps close to tyrosinase and is a candidate gene for Usher syndrome type I. Human Molecular Genetics 2 (2), 115-118
Farrar G.J., Kenna P., Jordan S.A., Kumar-Singh R., Humphries M.M., Sharp E.M., Sheils
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A three-base-pair detection in the pheripherin-RDS gene in one form of retinitis pigmentosa. Nature 1991, 354, 6353, 478-480.
Fishman J.A.: Retinitis Pigmentosa Genetic Percentages. Archiv. Ophthalmol. 1978, 96, 5, 822-826.
Fishman J.A., Rockefeller S.L. Young, Vasquez V., Lourenco P.:
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Fishman J.A., Stone E.M., Gilbert L.D., Kenna P., Sheffield V.C.:
Ocular Findings Associated With a Rhodopsin Gene Codon 58 Transversion Mutation in Autosomal Dominant Retinitis Pigmentosa. Arch. Ophthalmol. 1991, 109, 10, 1387-1393
Fishman J.A., Stone E.M., Sheffield V.C., Gilbert L.D., Kimura A.E.: Ocular Findings Associated With Rhodopsin Gene Codon 17 and Codon 182 Transversion Mutation in Dominant Retinitis Pigmentosa. Arch. Ophthalmol. 1991, 110, 1, 54-62.
Franceschetti A., Klein D.: Retinite dominante avec surdite. Confinia Neurol. 1947/48, 8, 6, 339-342
Goode R.L., Rafaty F.M., Simmons F.B.: Hearing loss in Retinitis Pigmentosa. Pediatrics
1967, 40, 5, 875-880
Gorlin R.J.,: Retinitis pigmentosa and sensorineural hearing loss /Usher syndrome/. Unpublished date from author /July 1993/.
Hammerstein W.: Genetische Beratung bei Retinopathia pigmentosa.
In: Ophthalmologische Genetik, Symposium der Deutschen Ophthalmologischen Gesellschaft 30-31. 03.1984, in Düsseldorf, Ferdinand Enke Verlag Stuttgart, 1985, Rozdz. 37, 284-292.
Hasson, T., Heintzelmann, M. B., Santos-Sacchi, J., Corey, D-P., Mooseker, M.S. (1995): Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1 B. Proc. Natl. Acad. Sci USA 92, 9815-9819
Hasson, T., Walsh, J., Cavle, J., Mooseker, M. S., Brown, S.D.M. & Steel, K.P. (1997): Effects of shaker 1 Mutations on myosin VIIa protein and mRNA expression. Cell Motility and the cytoskeleton, 37 (2). 127-138
Hayakawa M., Imai Y., Wakita M., Kato K., Yanashima K.,Miyake Y., Kanai A.: A Japanese
pedigree of autosomal dominant congenital stationary night blindness with variable
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Heckenlively J.R., Rodriguez J.A., Daiger S.P.:
Autosomal Dominant Sectoral Retinitis Pigmentosa.
Arch. Ophthalmol. 1991, 109, 1, 84-91
Holland M.G., Cambie E., Kloepfer W.::
An evaluation of genetic carriers of Usher's Syndrom. Am.J.Ophthalmol. 1972, 74, 5, 940 -947
Jacobsen S.G., Kemp C.M., Sung C-H., Nathans J.: Retinal Function and Rhodopsin Levels in Autosomal Dominant Retinitis Pigmentosa with Rhodopsis Mutations. Am. J. Ophthalmol. 1991, 112, 256-271.
Jaeger W., Klein D., Goebel H.H., Krastel H.: Hereditäre Erkrankungen der Netzhautperipherie. In: Ophthalmologische Genetik, Symposium der Deutschen Ophthalmologischen Gesellschaft in Düsseldorf, F. Enke Verlag, Stuttgart 1985, rozdz. 36, 254-283.
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Die folgenden Literaturangaben sind alle aus dem Internet entnommen und dort unter folgender Adresse abrufbar: http://www.ncbi.nlm.nih.gov
276900 USHER SYNDROME, TYPE IA; USH1A
Alternative titles;
USHER SYNDROME, TYPE I; US1; USH1
USHER SYNDROME, TYPE I, FRENCH VARIETY
RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS
TEXT
Usher syndrome, or more appropriately the Usher syndromes, are named for Charles Usher (1914), a British ophthalmologist who emphasized their hereditary nature. The earliest descriptions were given by Von Graefe (1858), Liebreich (1861) who commented on a relatively high frequency in Jews in Berlin, and Hammerschlag (1907), Lindenov (1945) wrote on deaf-mutism associated with retinitis pigmentosa and feeblemindedness. Lang (1959) observed 5 affected children out of 10 from a first-cousin marriage. Hallgren (1959) found 177 affected persons in 102 families. In addition to the features noted in the title of his paper, cataract developed by age 40 in most. Mental deficiency and psychosis occurred in about one-quarter of cases. A large majority had a disturbance of gait attributed to a lesion of the labyrinth. Kloepfer et al. (1966) identified 537 persons with hearing loss in a French-Acadian ('Cajun') group in Louisiana. Of the 468 living persons with hearing loss, at least 158 or about 30% were known to have retinitis pigmentosa and cataract. (As the heterogeneity in Usher syndrome has become defined by clinical and linkage studies, the distinctive Acadian form is termed type IC. In Finland, Nuutila (1970) found 133 persons with retinitis pigmentosa and congenital sensory deafness, 4 with RP and progressive sensory deafness. Numerous studies suggest genetic heterogeneity of this phenotype.
On the basis of 133 patients in Finland, Forsius et al. (1971) concluded that there are two distinct forms of the Usher syndrome: one characterized by congenital deafness and severe retinitis pigmentosa, and a second less frequent form in which the inner ear and retina are less severely affected. Whether these were allelic forms or not was unknown. Holland et al. (1972) found gyrate atrophy in a few heterozygotes. Davenport et al. (1978) found that about 90% of reported cases had profound congenital deafness with onset of RP before puberty, whereas the rest had moderate to severe hearing loss from birth and RP beginning after puberty. Ataxia, probably labyrinthine in origin, occurred in a great majority of the first type and in a few of the second. The possibility of an X-linked form was suggested by 2 pairs of affected brothers whose mothers were sisters.
Gorlin et al. (1979) summarized the classification of Davenport and Omenn (1977) as
follows: type I--profound congenital deafness with onset of RP by age 10; type
II--moderate-to-severe congenital deafness with onset of RP in late teens; type III--RP
first noted at puberty with progressive hearing loss; type IV--possible X-linked form. The
fourth type was based on the observation of 4 affected brothers reported by Davenport et
al. (1978). In fact, autosomal recessive inheritance was considered most likely; the
heterozygous parents showed unilateral high-frequency hearing loss with normal retinal and
vestibular function. Maat-Kievit (1991) found no evidence of X-linked pedigrees in the
literature. Jay (1982) found 16 Usher syndrome families out of 571 RP families in the
experience of the Moorfields Eye Hospital in London. Other numbers were: autosomal
dominant, 130 families; X-linked, 27; autosomal recessive, 5; male multiplex, 24; mixed
multiplex, 76; simplex, 292 and adopted, 1. In 4 of 10 sibs, Karjalainen et al. (1983)
described an unusual form of Usher syndrome. In 2, hearing loss developed in school age;
in the other 2, it developed in the thirties. In 1, retinitis pigmentosa was diagnosed
before hearing impairment was evident. In a study of 70 patients, Fishman et al. (1983)
also suggested the existence of 2 distinct types of Usher syndrome. In their experience,
the deafness is congenital and nonprogressive, whereas the retinitis pigmentosa is
progressive. In their type I, onset of night blindness was earlier, visual field loss
occurred earlier and in greater severity, hearing impairment was more severe, speech was
more likely to be unintelligible, vestibular reflexes and clinically evident ataxia were
more frequently found--all as contrasted with type II. Of the 70 patients, 46 were type
II. Boughman et al. (1983) reviewed information on 600 cases of deaf-blindness in the
registry of the Helen Keller National Center for Deaf Blind Youths and Adults. Of these,
54% satisfied criteria for the diagnosis of Usher syndrome, although only 23.8% had been
so diagnosed. From the Louisiana School for the Deaf, they ascertained 30 males and 18
females in 26 nuclear families, reflecting the recognized high frequency in the Louisiana
Acadian population. They considered a prevalence estimate for the U.S. of 4.4 per 100,000
as conservative. Grondahl and Mjoen (1986) found 18 cases of Usher syndrome among 89
probands selected for tapetoretinal degeneration.Among the relatives, another 10 cases of
Usher syndrome were found. These fell into the 3 types as follows: type I, 14 cases; type
II, 10 cases; type III (according to Davenport and Omenn (1977)), 4 cases. In 12 families
the pattern of inheritance was autosomal recessive; the remaining 6 probands were solitary
cases without parental consanguinity. There was a high intrafamilial correlation with
respect to hearing function. Vestibular response was abolished in 3 patients with type I
and was normal in 3 patients with type II and in 1 patient with type III. Shinkawa and
Nadol (1986) studied the inner ear of a patient with type III Usher syndrome who died at
age 52 of
metastatic cancer. They found hair cell loss in the basal turn, severe loss of spiral ganglion cells, widespread neural degeneration in the cochlea, and discrete collections of degenerating supporting cells in the organ of Corti. The pattern of neural degeneration bore some similarity to abnormalities in the retina in retinitis pigmentosa. In Norway, Grondahl (1987) found 28 patients from 18 families with Usher syndrome. The prevalence of Usher syndrome was calculated to be 3.6/100,000. Both retinitis pigmentosa and Usher syndrome were more prevalent in Lapps than in other Norwegians. Davenport et al. (1988) recognized 2 main types and a third rare type. Type I not only has congenital profound deafness and early onset of RP, but also congenitally absent vestibular function. Their type II has hearing loss which is congenital and of high frequency type, with little deterioration and with later onset of RP and normal vestibular function. In type III both hearing and vision start out normal or near-normal and progressively deteriorate over several decades. Type I children, because of the vestibular defect, have delayed motor milestones and clumsiness. Type II children are usually 'mainstreamed' with no problems until teen age. In Colombia, Tamayo et al. (1991) found that about 70% of the Usher syndrome cases were type I, about 26% type II, and 4% type III.
In the French-Acadian ('Cajun') population of southwestern Louisiana where Usher
syndrome is frequent (Kloepfer et al., 1966), Daiger et al. (1987) and Pelias et al.
(1988) found a suggestion of linkage to GC (139200) on 4q (maximum lod score = 1.41 at
theta = 0.17). In the same large Louisiana kindred, Smith et al. (1988, 1989) excluded the
Usher syndrome locus from a large part of chromosome 4 by multipoint linkage analysis.
Notably, a 17-cM region around the GC locus was excluded by reason of a lod score less
than -2.0. Bonneau et al. (1990) also excluded linkage to GC. Usher syndrome in the
'Cajuns' is predominantly type I, although some type II cases have been identified
(Kimberling, 1990; Smith et al., 1992). Linkage studies demonstrated that the common
Acadian type is genetically distinct; see 276904
Kaplan et al. (1990) excluded linkage of USH1 and the D1S81 marker, which is known to be linked to USH2. Kaplan et al. (1991) demonstrated linkage between the USH1 gene and a probe at the D14S13 locus, suggesting location of the gene on 14q (maximum lod = 2.70 at theta = 0.0). In a study of 10 families of western France ancestry, Kaplan et al. (1992) found a lod score of 4.13 at theta = 0.0 for linkage with D14S13. Of the 10 families, 8 originated from a small area of the Poitou-Charentes region, suggesting that a founder effect might be involved. The D14S13 marker is located between PI (107400) at 14q32.1 and D14S1 (107750) at 14q32.3 (Donis-Keller et al., 1992). Larget-Piet et al. (1994) combined linkage and geographic mapping to demonstrate heterogeneity of Usher syndrome type I in French families. In their sample of 20 families split into 2 groups according to the geographic origin of the probands' grandparents, they confirmed the presence of a gene on 14q32 (USH1A) in 9 families originating from the Poitou region in western France. Moreover, they refined the genetic mapping of USH1A by showing that the disease gene maps to the D14S13 locus, within the genetic interval defined by loci D14S78 and D14S250.
The symbol USH1A and the additional trivial designation of 'French variety' of Usher syndrome has been assigned to the form that was mapped to chromosome 14; the symbol USH1C has been assigned to the 'Acadian variety' of the disease on 11p (276904), and USH1B for the 'non-Acadian variety' on 11q (276903).
Smith et al. (1994)</A> described criteria for the clinical diagnosis of Usher syndrome, adopted by the Usher Syndrome Consortium. They pointed out that there was evidence for at least 3 distinct USH1 loci (USH1A, USH1B, USH1C) and 2 distinct USH2 loci. They pointed to the need to exclude congenital infections, such as rubella, syphilis, and cytomegalovirus, and problems associated with gestation, delivery, or the perinatal period that also can cause profound hearing loss and retinal damage.
Photoreceptors, auditory hair cells, and vestibular hair cells develop from ciliated progenitors. Several lines of evidence suggest that a generalized abnormality of axoneme structure is present in patients with Usher syndrome. Hunter et al. (1986) found a high proportion of abnormal axonemes in retinal photoreceptor cells of a patient with Usher syndrome. Shinkawa and Nadol (1986) found a decrease in outer ciliary cells in the lower part of the cochlea in this syndrome. Structural and functional evidence for abnormal nasal cilia has been found in this disorder as in other patients with retinitis pigmentosa Arden and Fox, 1979).Finally, sperm motility, velocity, and structure have been found abnormal in Usher syndrome, a feature probably related to the markedly decreased fertility of these patients (Hunter et al.,1986; Nuutila, 1970). Kaplan et al. (1992) noted that there is reason to think that a gene for normal ciliary function is located in the 14q32 region. Brueckner et al. (1989) found that the iv (situs inversus) mutation in the mouse maps to a corresponding region; this mouse mutation may be homologous to Kartagener syndrome (244400). Lake and Sharma (1973) reported the association of Kartagener syndrome with retinitis pigmentosa and congenital deafness. Bonneau et al. (1993) reported the association of type I Usher syndrome with bronchiectasis, chronic sinusitis and reduced nasal mucociliary clearance in 2 brothers and suggested that USH1 could be a primary ciliary disorder.
SEE ALSO
Bascom et al. (1992); Beatty et al. (1979), De Haas et al. (1970), Nuutila (1980), Smith et al. (1989), Usher (1935), Vernon (1969)
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32. Larget-Piet, D.; Gerber, S.; Bonneau, D.; Rozet, J.-M.; Marc, S.; Ghazi, I.;
Dufier, J.-L.; David, A.; Bitoun, P.; Weissenbach, J.; Munnich, A.; Kaplan, J. : Genetic
heterogeneity of Usher syndrome type 1 in French families. Genomics 21: 138-143, 1994.
PubMed ID : 8088781
33. Liebreich, R. : Abkunft aus Ehen unter Blutsverwandten als Grund von Retinitis pigmentosa. Dtsch. Klin. 13: 53 only, 1861.
34. Lindenov, H. : The Etiology of Deaf-mutism with Special Reference to Heredity. Copenhagen: E. Munksgaard (pub.) 1945.
35. Maat-Kievit, J. A. : Personal Communication. Leiden, The Netherlands, 3/25/1991.
36. Nuutila, A. : Dystrophia retinae pigmentosa-dysacusis syndrome (DRD): a study of
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PubMed ID : 5516287
37. Nuutila, A. : Dystrophia retinae pigmentosa-dysacusis syndrome (DRD). In: Eriksson, A. W.; Forsius, H. R.; Nevanlinna, H. R.; Workman, P. L.; Norio, R. K. : Population Structure and Genetic Disorders. New York: Academic Press (pub.) 1980. Pp. 614-616.
38. Pelias, M. Z.; Lemoine, D. R.; Kossar, A. L.; Ward, L. J.; Wilson, A. F.; Elston,
R. C. : Linkage studies of Usher syndrome: analysis of an Acadian kindred in Louisiana.
Cytogenet. Cell Genet. 47: 111-112, 1988.
PubMed ID : 3162715
39. Shinkawa, H.; Nadol, J. B., Jr. : Histopathology of the inner ear in Usher's
syndrome as observed by light and electron microscopy. Ann. Otol. Rhinol. Laryng. 95:
313-318, 1986.
PubMed ID : 3717858
40. Smith, R. J. H.; Berlin, C. I.; Hejtmancik, J. F.; Keats, B. J. B.; Kimberling, W.
J.; Lewis, R. A.; Moller, C. G.; Pelias, M. Z.; Tranebjaerg, L. : Clinical diagnosis of
the Usher syndromes. Am. J. Med. Genet. 50: 32-38, 1994.
PubMed ID : 8160750
41. Smith, R. J. H.; Daiger, S. P.; Pelias, M. Z.; Giesenschlag, N.; Hejtmancik, J. F. : Multipoint linkage analysis of Usher syndrome: exclusion of chromosome 4. (Abstract) Cytogenet. Cell Genet. 51: 1082 only, 1989.
42. Smith, R. J. H.; Holcomb, J. D.; Caskey, C. T.; Pelias, M. Z.; Daiger, S. P.; Heitmancik, J. F. : Multipoint linkage analysis of Usher syndrome: exclusion of chromosome 4. (Abstract) Am. J. Hum. Genet. 43: A159 only, 1988.
43. Smith, R. J. H.; Holcomb, J. D.; Daiger, S. P.; Caskey, C. T.; Pelias, M. Z.;
Alford, B. R.; Fontenot, D. D.; Hejtmancik, J. F. : Exclusion of Usher syndrome gene from
much of chromosome 4. Cytogenet. Cell Genet. 50: 102-106, 1989.
PubMed ID : 2776474
44. Smith, R. J. H.; Pelias, M. Z.; Daiger, S. P.; Keats, B.; Kimberling, W.;
Hejtmancik, J. F. : Clinical variability and genetic heterogeneity within the Acadian
Usher population. Am. J. Med. Genet. 43: 964-969, 1992.
PubMed ID : 1415347
45. Tamayo, M. L.; Bernal, J. E.; Tamayo, G. E.; Frias, J. L.; Alvira, G.; Vergara, O.;
Rodriguez, V.; Uribe, J. I.; Silva, J. C. : Usher syndrome: results of a screening program
in Colombia. Clin.Genet. 40: 304-311, 1991.
PubMed ID : 1756603
46. Usher, C. H. : Bowman's lecture: on a few hereditary eye affections. Trans.
Ophthal. Soc. U.K. 55: 164-245, 1935.
47. Vernon, M. : Usher's syndrome-deafness and progressive blindness. Clinical cases, prevention, theory and literature survey. J. Chronic Dis. 22: 133-151, 1969.
48. Von Graefe, A. : Exceptionelles Verhalten des Gesichtsfeldes bei Pigmententartung
der Netzhaut. Graefes Arch. Ophthal. 4: 250-253, 1858.
USHER SYNDROME, TYPE ID; USH1D
Usher syndrome type I is an autosomal recessive disorder characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa, and constant vestibular dysfunction. Three different loci had been found by linkage analysis: USH1A (276900) on 14q34, USH1B (276903) on 11q13, and USH1C (276904) on 11p15. Gerber et al. (1996) suggested the existence of yet a fourth form of Usher syndrome type I from the fact that the 3 previously reported loci were excluded by linkage studies in 2 families of Moroccan and Pakistani ancestry.
Wayne et al. (1996) reported that a first-cousin union in a family of Pakistani
origin produced 4 children with clinical signs of Usher syndrome, including profound
prelingual auditory impairment of sensorineural type, congenital vestibular dysfunction,
and progressive pigmentary retinopathy. Wayne et al. (1996) prepared 2 genomic DANN pools,
one from the affected children and the other from the parents,and screened 161 polymorphic
markers evenly spaced across the autosomal genome. The only region showing homozygosity by
descent in the affected sibs was a 15-cM interval on chromosome 10 bounded by D10S529 and
D10S573. Wayne et al. (1996) concluded that this was the location of the gene responsible
for Usher syndrome in this family. They symbolized the locus USH1D.
REFERENCES
1. Gerber, S.; Larget-Piet, D.; Rozet, J.-M.; Bonneau, D.; Mathieu, M.; Der Kaloustian,
V.; Munnich, A.; Kaplan, J. : Evidence for a fourth locus in Usher syndrome type I. J.
Med. Genet. 33: 77-79, 1996.
PubMed ID : 8825055
2. Wayne, S.; Der Kaloustian, V. M.; Schloss, M.; Polomeno, R.; Scott, D. A.;
Hejtmancik, J. F.; Sheffield, V. C.; Smith, R. J. H. : Localization of the Usher syndrome
type ID gene (Ush1D) to chromosome 10. Hum. Molec. Genet. 5: 1689-1692, 1996.
PubMed ID : 8894709
*276904 USHER SYNDROME, TYPE IC; USH1C
Of the 16,000 deaf-blind persons in the United States, more than half are believed to have Usher's syndrome, a combination of progressive pigmentary retinopathy and congenital sensorineural hearing loss. In type I Usher syndrome, vestibular function is absent or defective as well.Genetically, 3 varieties of type I can be identified. One form, known as the French variety or USH1A (276900), is located on 14q. A second very frequent form of Usher syndrome is determined by a mutation on 11q (276903). In the Acadian families of Louisiana, Smith et al. (1992) demonstrated that the Usher syndrome was linked to D11S419 (maximum lod = 4.20 at theta = 0.0), which is situated on 11p. Smith et al. (1992) pointed to brain-derived neurotrophic factor (113505), which maps to 11p13, as a possible candidate gene. Furthermore, a homologous region on mouse chromosome 7 is the site of a recessive deaf mutant 'twister' (twt), a disorder possibly homologous to Usher syndrome.
Keats et al. (1994) mapped the USH1C gene to a region of 11p15.1 by tight linkage to microsatellite markers. In addition, linkage disequilibrium was observed. Fantes et al. (1995) constructed an integrated map of this region, including the markers tightly linked to USH1C.
Heckenlively et al. (1995) described a mouse mutant that may be the homolog of that producing Usher syndrome type IC. The mutation, designated rd5, showed linkage on chromosome 7 to Hbb (141900) and tub which are located in a region with homology of synteny to human 11p15.The electroretinogram in homozygous rd5/rd5 mice was never normal, with reduced amplitudes that extinguished by 6 months. At 3 weeks, auditory-evoked response testing demonstrated increased hearing thresholds above controls of about 30 decibels (dB) that worsened to about 45 dB by 6 months. By indirect ophthalmoscopy, Heckenlively et al. (1995) observed etinal abnormalities by 6 weeks: arterial attenuation, venous dilation, and a granule appearance to the retinal pigment epithelium. By 5 months, severe retinal vessel attenuation and sheathing, focal and diffuse loss of pigment epithelium, and patches of pigment deposits were obvious.
1. Fantes, J. A.; Oghene, K.; Boyle, S.; Danes, S.; Fletcher, J. M.; Bruford, E. A.;
Williamson, K.; Seawright, A.; Schedl, A.; Hanson,I.; Zehetner, G.; Bhogal, R.; Lehrach,
H.; Gregory, S.; Williams, J.; Little, P. F. R.; Sellar, G. C.; Hoovers, J.; Mannens, M.;
Weissenbach, J.; Junien, C.; van Heyningen, V.; Bickmore, W. A. :A high-resolution
integrated physical, cytogenetic, and genetic map of human chromosome 11: distal p13 to
proximal p15.1. Genomics 25: 447-461, 1995.
PubMed ID : 7789978
2. Heckenlively, J. R.; Chang, B.; Erway, L. C.; Peng, C.; Hawes, N. L.; Hageman, G.
S.; Roderick, T. H. : Mouse model for Usher syndrome: linkage mapping suggests homology to
Usher type I reported at human chromosome 11p15. Proc. Nat. Acad. Sci. 92: 11100-11104,
1995.
PubMed ID : 7479945
3. Keats, B. J. B.; Nouri, N.; Pelias, M. Z.; Deininger, P. L.; Litt, M. : Tightly
linked flanking microsatellite markers for the Usher syndrome type I locus on the short
arm of chromosome 11. Am. J. Hum. Genet. 54: 681-686, 1994.
PubMed ID : 8128966
4. Kimberling, W. J.; Moller, C. G.; Davenport, S.; Priluck, I. A.; Beighton, P. H.;
Greenberg, J.; Reardon, W.; Weston, M. D.; Kenyon, J. B.; Grunkemeyer, J. A.; Pieke Dahl,
S.; Overbeck, L. D.; Blackwood, D. J.; Brower, A. M.; Hoover, D. M.; Rowland, P.; Smith,
R. J. H.: Linkage of Usher syndrome type I to the long arm of chromosome 11. Genomics 14:
988-994, 1992.
PubMed ID : 1478677
5. Smith, R. J. H.; Lee, E. C.; Kimberling, W. J.; Daiger, S. P.; Pelias, M. Z.; Keats,
B. J. B.; Jay, M.; Bird, A.; Reardon, W.; Guest, M.; Ayyagari, R.; Hejtmancik, J. F. :
Localization of two genes for Usher syndrome type I to chromosome 11. Genomics 14:
995-1002, 1992.
PubMed ID : 1478678
*276903 MYOSIN VIIA; MYO7A
TEXT
Usher syndrome type I is an autosomal recessive disorder characterized by profound congenital deafness, vestibular areflexia, and progressive retinitis pigmentosa. It is the most common cause of combined deafness and blindness in developed countries. The frequency of Usher syndrome was estimated to be 3.0/100,000 in Scandinavia (Hallgren, 1959) and 4.4/100,000 in the United States (Boughman et al., 1983). Type I is distinguished from type II (276901) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function (Moller et al., 1989).
Usher syndrome type I has been shown to be heterogeneous since at least 3 genes have
been revealed by linkage studies. One, type IA, maps to chromosome 14 (276900) and
another, type IC, to chromosome 11p (276904); a third has been shown by Kimberling et al.
(1992) to map to 11q, probably distal to marker D11S527. The study by Kimberling et al.
(1992) was based on 27 families derived from the United States, Sweden, Ireland, and South
Africa. There were no families from either the Louisiana Acadian population or the
Poitou-Charentes region of France, both of which are known to have a disorder mapping to
other sites.
Smith et al. (1992) investigated 11 British USH1 families and confirmed linkage to D11S527 at 11q. The locus for Best disease (153700) also maps to 11q3. Bascom et al. (1992) suggested that ROM1 (180721) is a candidate gene for both a form of Usher syndrome type I and Best syndrome, as well as for a form of autosomal dominant retinitis pigmentosa. In an extensive Samaritan kindred in Israel, Bonne-Tamir et al. (1994) demonstrated linkage of the Usher syndrome phenotype to markers on 11q. Complete linkage disequilibrium between D11S533 and the Usher gene suggested that these loci are either identical or adjacent.
Weil et al. (1995) stated that USH1B, which maps to 11q13.5, accounts for about 75% of type I Usher syndrome patients. They demonstrated that mutation in the gene encoding myosin VIIA is responsible for the phenotype. Two different premature stop codons, a 6-bp deletion, and 2 missense mutations were detected in 5 unrelated families. In one of these families, the mutations were identified in both alleles. These mutations, which are located at the amino-terminal end of the motor domain of the protein, are likely to result in the absence of a functional protein.
Cytoskeletal abnormalities in Usher syndrome patients are indicated by the abnormal organization of microtubules in the axoneme of their photoreceptor cells (connecting cilium), nasal cilia cells, and sperm cells, as well as by the widespread degeneration of the organ of Corti that is responsible for deafness. This indication prompted Weil et al. (1995) to undertake a candidate gene approach to Usher syndrome type IB. Furthermore, identification of a gene encoding an unconventional myosin as a candidate for 'shaker-1' (sh1), a form of mouse deafness (Gibson et al., 1995), that maps to a homologous region of the mouse genome on chromosome 7, led them to consider a human homolog as a good candidate for the gene that is defective in USH1B.However, the sh1 phenotype differs from that of Usher syndrome by the absence of retinal degeneration. Weil et al. (1995) noted that one form of human neurosensory recessive deafness without retinal dystrophy,DFNB2 (600060), maps to 11q in the same general region as USH1B and may represent the human equivalent of sh1.
Unconventional myosins are motor molecules with structurally conserved heads that move along actin filaments using their actin-activated ATPase activity. Their highly divergent tails are presumed to be tethered to different macromolecular structures that move relative to actin filaments.
Shaker-1 homozygotes show hyperactivity, head-tossing and circling due to vestibular
dysfunction, together with typical neuroepithelial-type cochlear defects involving
dysfunction and progressive degeneration of the organ of Corti. Gibson et al. (1995)
described 3 different mutations (2 missense mutations and a splice acceptor site mutation)
in the gene encoding an unconventional myosin molecule of the type VII family. All the
mutations were located in the region encoding the myosin head. Gibson et al. (1995) used
positional cloning based on the fact that the olfactory marker protein gene (Omp) is very
tightly linked to the mouse sh1 mutation on mouse chromosome 7.Among the 9 unique
exon-trap products found in a YAC from this region, there was 1 that was used to isolate a
4.6-kb clone from a mouse inner-ear cDNA library. Sequence analysis demonstrated that this
was the gene encoding myosin VIIA. Thus, USH1B and 'shaker' are primary cytoskeletal
protein defects. Other unconventional myosins and their interacting proteins are
candidates for other genetic forms of Usher syndrome.
El-Amraoui et al. (1996) analyzed the expression of myosin VIIA in retinal cells during development in mouse and human. In the human embryo myosin VIIA was present in the retinal pigment epithelium at 6, 9 and 10 weeks. From 18 to 19 weeks on myosin VIIA was present in both the pigment epithelium and the photoreceptor cells. In the adult human myosin VIIA was detected in the pigment epithelium cells as well as in the rod and cone photoreceptor cells. In the photoreceptor cells, myosin VIIA was mainly present in the inner segments, the base of the outer segments and the synaptic endings. Analysis of myosin VIIA distribution in mouse retina showed that the photoreceptor cells did not express myosin VIIA mRNA, whereas the pigment epithelium cells expressed myosin VIIA throughout murine development and post-natal life. El-Amraoui et al. (1996) proposed that USB1B results from a primary rod and cone defect. The shaker-1 phenotype has no retinal defect since myosin VIIA is absent from the photoreceptor cells in rodents. El-Amraoui et al. (1996) reported that myosin VIIA is expressed in the cochlear sensory hair cells during mouse embryonic development and that myosin VIIA expression is restricted to sensory hair cells in the developing human otic vesicle. They noted that this expression pattern correlated to the vestibular and cochlear dysfunctions resulting in balance problems and hearing impairment observed in both Usher patients and shaker-1 mouse mutants.
Wagenaar et al. (1995) studied 17 obligate carriers from 9 families with autosomal recessive Usher syndrome type I. Linkage studies showed linkage to 11q13.5 in 6 families, while 3 families failed to show linkage to candidate regions. Eight obligate carriers had an abnormal pure-tone audiogram. Four carriers had significant sensorineural hearing loss which increased at higher frequencies. The other 13 carriers had sensorineural hearing loss of about 10 dB at 0.25 and 0.5 kHz, but less at higher frequencies. Electrooculography demonstrated a significantly lower mean light peak/dark trough ratio in carriers than in controls. The methods were, however, not sufficiently specific to identify carriers with confidence.
Weil et al. (1996) presented the cDNA sequence of myosin VIIA which predicted a 2,215-amino acid protein with a typical unconventional myosin structure. The protein was expected to dimerize into a 2-headed molecule. The C terminus of its tail share homology with the membrane-binding domain of the band 4.1 protein superfamily (see 130500). The gene consists of 48 coding exons, and encodes several alternatively spliced forms. In situ hybridization analysis in human embryos demonstrated that the myosin VIIA gene is expressed in the pigment epithelium and the photoreceptor cells of the retina, thus indicating to the authors that both cell types may be involved in the retinal degenerative process in Usher syndrome type 1B. In addition, the gene is expressed in the human embryonic cochlear and vestibular neuroepithelia. Weil et al. (1996) suggested that deafness and vestibular dysfunction in Usher syndrome patients may result from a defect in the morphogenesis of the inner ear sensory cell stereocilia.
Chen et al. (1996) cloned cDNAs encoding a previously unexplored portion of the MYO7A gene. Two transcripts were found, 1 encoding the predicted 250-kD protein and another encoding a shorter form. Both transcripts were found in highest abundance in testis, although the shorter one was much less abundant. Both could be detected in lymphocytes by RT-PCR. The myosin tail encoded by the long transcript includes a long repeat of approximately 460 amino acids. Each repeat contains a novel 'MyTH4' domain similar to domains in 3 other myosins, and a domain similar to the membrane-associated portion of talin (186745) and other members of the band-4.1 family.
Weston et al. (1996) screened a panel of 189 genetically independent cases of Usher syndrome type I for the presence of mutations in the N-terminal coding portion of the motor domain of MYO7A by heteroduplex analysis of 14 exons. They found 23 mutations segregating with the disease in 20 families. Of the 23 mutations, 13 were unique, and 2 of the 13 unique mutations (arg212his; 276903.0004 and arg212cys; 276903.0005) accounted for the greatest percentage of observed mutant alleles (31% or 8/23 alleles). Six of the 13 mutations caused premature stop codons, 6 caused changes in the amino acid sequence of the myosin VIIa protein, and 1 resulted in a splicing defect. Three patients were homozygotes or compound heterozygotes for mutant alleles. All the other USH1B mutations observed were present in heterozygous state and it is presumed that the mutation on the other allele was present in the unscreened regions of the gene. None of the mutations reported by Weston et al. (1996) were observed in 96 unrelated control samples, although several polymorphisms were detected. The results raised the total number of unique mutations reported in MYO7A at that time to 16.
Levy et al. (1997) designed primers covering the complete MYO7A coding sequence, as
well as the 3-prime noncoding sequence, allowing direct sequence analysis of each of the
48 coding exons and flanking splice sites in 7 patients with USH1. They identified 4 novel
mutations. Adato et al. (1997) screened USH1B families from 12 different ethnic groups for
the presence of mutations in all 49 exons of the MYO7A gene. In 15 families, MYO7A
mutations were detected, verifying their classification as USH1B. All of these mutations
were novel, including 3 missense mutations, 1 premature stop codon, 2 splicing mutations,
1 frameshift, and 1 deletion of more than 2 kb comprising exons 47 and 48, a part of exon
49, and the introns between them. Three mutations were shared by more than 1 family,
consistent with haplotype similarities. Altogether, 16 USH1B haplotypes were observed in
the 15 families; most haplotypes were population specific. Several exonic and intronic
polymorphisms were also detected. None of the 20 known USH1B mutations reported previously
in other populations of the world were identified in these families, which although
studied in Tel Aviv, were derived from many areas of the world.
ALLELIC VARIANTS
.0001 USHER SYNDROME TYPE 1B [MYO7A, 163C-T TER]
Among 9 unrelated families with Usher syndrome type IB, Weil et al. (1995) found 3 different mutations in 3 families. In affected members of family 1, a heterozygous C-to-T transition in the first exon (nucleotide 163) resulted in a premature stop codon in 1 allele. In the other allele, there was a 6-bp deletion (276903.0003).
.0002 USHER SYNDROME TYPE 1B [MYO7A, 108C-T, TER]
In their family 2 with Usher syndrome type IB, Weil et al. (1995) found a heterozygous C-to-T transition in the third exon (nucleotide 108), resulting in a premature stop codon.
.0003 USHER SYNDROME TYPE 1B [MYO7A, 6-BP DEL]
In their families 1 and 3 with Usher syndrome type IB, Weil et al. (1995) found the same inframe 6-bp deletion (GACACT) in exon 3, position 60 to 65, leading to loss of amino acid residues asp (D) and ile (I). In family 1, the 2 affected brothers inherited the deleted allele from their father and the nonsense mutation from their mother. Family 1 and family 3 originated from different geographic regions, suggesting that 2 independent mutational events were responsible for the 6-bp deletion. The deletion occurred in an 11-bp sequence containing 2 5-bp direct repeats, and it is possible that either replication slippage or slipped-strand mispairing is responsible for the mutational event. In family 3, only 1 of the mutant alleles was identified.
.0004 USHER SYNDROME TYPE 1B [MYO7A, ARG212HIS ]
Weston et al. (1996) found that 8 of 23 mutant alleles detected in their study of Usher syndrome type 1B were either arg212his or arg212cys (276903.0005). This mutation occurring in exon 7 was due to either a G-to-A transition (CGT-to-CAT) or a C-to-T transition (CGT-to-TGT). In some instances, the arg212his mutation was in cis with an arg302his mutation in exon 9. Affected sibs in a Dutch family were homozygous for the double mutation at both codons, while the affected sibs in a Finnish family showed only paternal inheritance of both mutations. Arg302his (276903.0006) and arg212his have both been observed singly in affected persons. Neither of the 2 mutations were observed in controls, either singly or as double mutations. Although these 3 mutations were the most common ones observed, comprising approximately 50% of all mutations found, they still represented less than 3% of the total USH1B chromosomes studied. Furthermore, no linkage disequilibrium between USH1B and several adjacent polymorphic markers was found, suggesting that there are several independently occurring mutations and no common USH1B allele.
.0005 USHER SYNDROME TYPE 1B [MYO7A, ARG212CYS ]
See 276903.0004 and Weston et al. (1996).
.0006 USHER SYNDROME TYPE 1B [MYO7A, ARG302HIS ]
See 276903.0004 and Weston et al. (1996).
.0007 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE, 2; DFNB2 [MYO7A, ARG244PRO ]
Liu et al. (1997) found mutations in the MYO7A gene in 2 of 8 families with autosomal recessive nonsyndromic deafness (600060) from the Sichuan province of China. In 1 family, 3 affected sibs were homozygous for an arg244-to-pro mutation.
.0008 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE, 2; DFNB2 [MYO7A, IVS3AS, A-G,-2 ]
In a Chinese family with nonsyndromic autosomal recessive deafness (600060), Liu et al. (1997) found that 2 sibs were compound heterozygotes for an acceptor splice site mutation of intron 3 (-2a-to-g) in 1 allele, while the other allele carried a T insertion in exon 28 (276903.0009), val1199insT(FS), leading to a frameshift and stop codon 28 amino acids downstream.
.0009 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE, 2; DFNB2 [MYO7A, 1-BP INS, FS1227TER]
See 276903.0008 and Liu et al. (1997).
.0010 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE, 2; DFNB2 [MYO7A, MET599ILE ]
In a large consanguineous DFNB2 (600060)-affected family from Tunisia, 22 individuals were affected with profound deafness. The age of onset ranged from birth to 15 years of age (Guilford et al., 1994). Weil et al. (1997) analyzed the sequence of the 48 coding exons of MYO7A in members of this family and detected a G-to-A transition at the last nucleotide of exon 15, converting a methionine to an isoleucine residue (M599I). All 22 affected individuals were homozygous for the mutation and their normal parents were heterozygous. The mutation was not detected in 100 unaffected individuals living in the same Tunisian region who were not related to the affected family.
.0011 DEAFNESS, NEUROSENSORY, AUTOSOMAL DOMINANT, 11; DFNA11 [MYO7A, 9-BP DEL, ALA-LYS-LYS DEL ]
In the Japanese family with autosomal dominant nonsyndromic hearing loss mapping to 11q
(DFNA11; 601317), Liu et al. (1997) demonstrated an inframe 9-bp deletion in exon 22 of
the MYO7A gene, leading to deletion of 3 amino acids (ala886-lys887-lys888) in the
coiled-coil region of the protein. All affected members of the family had postlingual
bilateral sensorineural hearing loss with subsequent gradual progression. This was the
first mutation identified in the coiled-coiled region.
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PubMed ID : 1478677
11. Levy, G.; Levi-Acobas, F.; Blanchard, S.; Gerber, S.; Larget-Piet, D.; Chenal, V.;
Liu, X.-Z.; Newton, V.; Steel, K. P.; Brown, S. D. M.; Munnich, A.; Kaplan, J.; Petit, C.;
Weil, D. : Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome
type IB. Hum. Molec. Genet. 6: 111-116, 1997.
PubMed ID : 9002678
12. Liu, X.-Z.; Walsh, J.; Mburu, P.; Kendrick-Jones, J.; Cope, M. J. T. V.; Steel, K.
P.; Brown, S. D. M. : Mutations in the myosin VIIA gene cause non-syndromic recessive
deafness. Nature Genet. 16: 188-190, 1997.
PubMed ID : 9171832
13. Liu, X.-Z.; Walsh, J.; Tamagawa, Y.; Kitamura, K.; Nishizawa, M.; Steel, K. P.;
Brown, S. D. M. : Autosomal dominant non-syndromic deafness caused by a mutation in the
myosin VIIA gene. (Letter) Nature Genet. 17: 268-269, 1997.
PubMed ID : 9354784
14. Moller, C. G.; Kimberling, W. J.; Davenport, S. L. H.; Priluck, I.; White, V.;
Biscone-Halterman, K.; Odkvist, L. M.; Brookhouser, P. E.; Lund, G.; Grissom, T. J. :
Usher syndrome: an otoneurologic study. Laryngoscope 99: 73-79, 1989.
PubMed ID : 2909824
15. Smith, R. J. H.; Lee, E. C.; Kimberling, W. J.; Daiger, S. P.; Pelias, M. Z.;
Keats, B. J. B.; Jay, M.; Bird, A.; Reardon, W.; Guest, M.; Ayyagari, R.; Hejtmancik, J.
F. : Localization of two genes for Usher syndrome type I to chromosome 11. Genomics 14:
995-1002, 1992.
PubMed ID : 1478678
16. Wagenaar, M.; ter Rahe, B.; van Aarem, A.; Huygen, P.; Admiraal, R.;
Bleeker-Wagemakers, E.; Pinckers, A.; Kimberling, W.; Cremers, C. : Clinical findings in
obligate carriers of type I Usher syndrome. Am. J. Med. Genet. 59: 375-379, 1995.
PubMed ID : 8599365
17. Weil, D.; Blanchard, S.; Kaplan, J.; Guilford, P.; Gibson, F.; Walsh, J.; Mburu,
P.; Varela, A.; Levilliers, J.; Weston, M. D.; Kelley, P. M.; Kimberling, W. J.; Wagenaar,
M.; Levi-Acobas, F.; Larget-Piet, D.; Munnich, A.; Steel, K. P.; Brown, S. D. M.; Petit,
C. : Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature 374: 60-61,
1995.
PubMed ID : 7870171
18. Weil, D.; Kussel, P.; Blanchard, S.; Levy, G.; Levi-Acobas, F.; Drira, M.; Ayadi,
H.; Petit, C. : The autosomal recessive isolated deafness, DFNB2, and the Usher 1B
syndrome are allelic defects of the myosin-VIIA gene. Nature Genet. 16: 191-193, 1997.
PubMed ID : 9171833
19. Weil, D.; Levy, G.; Sahly, I.; Levi-Acobas, F.; Blanchard, S.; El-Amraoui, A.;
Crozet, F.; Philippe, H.; Abitbol, M.; Petit, C. : Human myosin VIIA responsible for the
Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing
sensory epithelia. Proc. Nat. Acad. Sci. 93: 3232-3237, 1996.
PubMed ID : 8622919
20. Weston, M. D.; Kelley, P. M.; Overbeck, L. D.; Wagenaar, M.; Orten, D. J.; Hasson,
T.; Chen, Z.-Y.; Corey, D.; Mooseker, M.; Sumegi, J.; Cremers, C.; Moller, C.; Jacobson,
S. G.; Gorin, M. B.; Kimberling, W. J. : Myosin VIIA mutation screening in 189 Usher
syndrome type 1 patients. Am. J. Hum. Genet. 59: 1074-1083,1996.
PubMed ID : 8900236
*276901 USHER SYNDROME, TYPE II; USH2
TEXT
See 276900 for clinical and genetic characterization of the types of Usher syndrome. In brief, Usher syndrome type II is distinguished from Usher syndrome type I by less severe hearing loss and absence of vestibular problems.
In studies of 8 USH2 families, Kimberling et al. (1990) found linkage to 3 markers in the distal region of 1q, with maximum multipoint lod = 6.37 at the position of marker THH33 (D1S81). Nine USH1 families failed to show linkage to the same 3 markers. Lewis et al. (1990) performed linkage studies in 6 families with USH1 and 22 families with USH2. In the USH2 kindreds, linkage was found to DNA marker THH33 located on 1q; maximum lod score = 6.5 at 9 cM. Linkage to this marker was not found in the USH1 families. Usher syndrome type II may be genetically heterogeneous since at least 1 family failed to show linkage to 1q34-q41 markers (Pieke Dahl et al., 1991). Indeed, Smith et al. (1992) quoted Kimberling as estimating that 5 to 10% of USH2 families do not show linkage to this region of chromosome 1. By analysis of marker data on 68 Usher II families, Kimberling et al. (1995) placed the USH2A gene into a 2.1-cM region between the markers D1S237 and D1S229. The gene for transforming growth factor beta-2 (190220) and the gene for the homeodomain box HLX1 (142995) were eliminated as candidate genes by virtue of their localization outside these flanking markers. The earlier finding of genetic heterogeneity was confirmed in 6 new families, and the proportion of unlinked Usher II families was estimated to be 12.5%.
Blanchet et al. (1992) described a patient with presumably type II Usher syndrome who had apparent acceleration of retinitis pigmentosa following cytotoxic chemotherapy for non-Hodgkin lymphoma. Robbins et al. (1984) claimed that lymphoid and fibroblast cell lines derived from patients with Usher syndrome are hypersensitive to DNA-damaging agents such as x-ray. Lymphoblastoid cells from dominantly inherited RP showed no hypersensitivity. Thus, the DNA-damaging effects of chemotherapy may have had particularly deleterious consequences for this patient. See the choroideremia-like gene (118825) which may be a candidate gene for USH2.
Pieke Dahl et al. (1993) studied a family thought to have type II Usher syndrome in 4 of 7 sibs and excluded linkage to markers spanning the 1q32-q41 region. Scrutiny of the phenotypic characteristics suggested that this unlinked family may represent a previously unreported subtype of Usher syndrome type II characterized by a milder form of retinitis pigmentosa and mild vestibular abnormalities; see Usher syndrome, type IIB (USH2B; 276905).
Pieke-Dahl et al. (1996) studied linkage to 1q41 markers in 29 Dutch families with
clinical manifestations of Usher syndrome, type 2. Linkage to 1q41 was shown in 26
families; therefore, 90% of these families have Usher syndrome, type 2a. Three families
showed no linkage to 1q41 markers; these families may have Usher syndrome, type 2b. One of
these families was also unlinked to 3q markers, excluding Usher syndrome, type 3 (276902);
the results in 2 other families were inconclusive for 3q markers. There were no
significant associations between the USH2A gene and specific alleles from flanking loci.
Nomenclature: The form of mild autosomal recessive Usher syndrome that maps to 1q41 is
symbolized USH2A; the unlinked form is designated USH2B.
REFERENCES
1. Blanchet, P.; Wellemeyer, M. L.; Burton, G. V. : Retinitis pigmentosa following
cytotoxic chemotherapy in Usher's syndrome. Am. J. Med. Sci. 303: 319-320, 1992.
PubMed ID : 1580321
Cremers FP, Molloy CM, van de Pol DJ, van den Hurk JA, Bach I, Geurts van Kessel AH,
Ropers HH.: An autosomal homologue of the choroideremia gene colocalizizes with the Usher
syndrome type II locus on the distal part of chromosome 1 q. Hum. Mol. Genet. 1992 May,
1(2): 71-5, ISSN 0964-6906
2. Kimberling, W. J.; Weston, M. D.; Moller, C.; Davenport, S. L. H.; Shugart, Y. Y.;
Priluck, I. A.; Martini, A.; Milani, M.; Smith, R. J. : Localization of Usher syndrome
type II to chromosome 1q. Genomics 7: 245-249, 1990.
PubMed ID : 2347588
3. Kimberling, W. J.; Weston, M. D.; Moller, C.; van Aarem, A.; Cremers, C. W. R. J.;
Sumegi, J.; Ing, P. S.; Connolly, C.; Martini, A.; Milani, M.; Tamayo, M. L.; Bernal, J.;
Greenberg, J.; Ayuso, C. : Gene mapping of Usher syndrome type IIa: localization of the
gene to a 2.1-cM segment on chromosome 1q41. Am. J. Hum. Genet. 56: 216-223, 1995.
PubMed ID : 7825581
4. Lewis, R. A.; Otterud, B.; Stauffer, D.; Lalouel, J.-M.; Leppert, M. : Mapping
recessive ophthalmic diseases: linkage of the locus for Usher syndrome type II to a DNA
marker on chromosome 1q. Genomics 7: 250-256, 1990.
PubMed ID : 1971808
5. Pieke-Dahl, S.; van Aarem, A.; Dobin, A.; Cremers, C. W. R. J.; Kimberling, W. J. :
Genetic heterogeneity of Usher syndrome type II in a Dutch population. J. Med. Genet.
33:753-757, 1996.
PubMed ID : 8880575
6. Pieke Dahl, S.; Kimberling, W. J.; Gorin, M. B.; Weston, M. D.; Furman, J. M. R.;
Pikus, A.; Moller, C. : Genetic heterogeneity of Usher syndrome type II. J. Med. Genet.
30: 843-848, 1993.
PubMed ID : 7901420
7. Pieke Dahl, S.; Weston, M. D.; Kimberling, W. J.; Gorin, M. B.; Shugart, Y. Y.;
Kenyon, J. B. : Possible genetic heterogeneity of Usher syndrome type 2: a family unlinked
to chromosome 1q markers. (Abstract) Am. J. Hum. Genet. 49 (suppl.): 200 only,1991.
8. Robbins, J. H.; Scudiero, D. A.; Otsuka, F.; Tarone, R. E.; Brumback, R. A.;
Wirtschafter, J. D.; Polinsky, R. J.; Barrett, S. F.; Moshell, A. N.; Scarpinato, R. G.;
Ganges, M. B.; Nee, L. E.; Meyer, S. A.; Clatterbuck, B. E. :Hypersensitivity to
DNA-damaging agents in cultured cells from patients with Usher's syndrome and Duchenne
muscular dystrophy. J. Neurol. Neurosurg. Psychiat. 47: 391-398, 1984.
PubMed ID : 6726265
9. Smith, R. J. H.; Lee, E. C.; Kimberling, W. J.; Daiger, S. P.; Pelias, M. Z.; Keats,
B. J. B.; Jay, M.; Bird, A.; Reardon, W.; Guest, M.; Ayyagari, R.; Hejtmancik, J. F. :
Localization of two genes for Usher syndrome type I to chromosome 11. Genomics 14:
995-1002, 1992.
10. van Aarem A, Cremers CW, Pinckers AJ, Huygen PL, Hombergen GC, Kimberling BJ: The
Usher syndrome type 2 a: clinical findings in obligate carriers. Int. J. Pediatr.
Otorhinolaryngol., 1995 Mar., 31 (2-3: 159-74, ISSN: 0165-5876
11. Weston MD, Kimberling WJ, Moller CG, Pieke Dahl S. Smith RJ, Martini A, Milani M.: A progress report on the localization of Usher syndrome type II to chromosome 1q. Ann N. Y. Acad.Sci. 1991, 630: 284-7, ISSN: 0077-8923
276902 USHER SYNDROME, TYPE III; USH3
TEXT
Karjalainen et al. (1985) described an apparently distinct type of Usher syndrome characterized by progressive hearing loss and vestibular hypoactivity. Smith et al. (1992) described a family in the French-Acadian population of southwestern Louisiana in which 2 males had a clinical phenotype like that in the family reported by Karjalainen et al. (1985). Both USH1 and USH2 are frequent among the Louisiana Acadians but this family appeared to have a separate form. USH3 has been estimated to comprise 2% of all Usher syndrome cases; however, based on clinical criteria, 42% of patients with Usher syndrome in Finland are thought to have USH3, suggesting gene enrichment by a founder effect. Sankila et al. (1994, 1995) excluded 4 other chromosomal sites at which Usher syndrome had been mapped: 14q32 (USH1A; 276900), 11q13.5 (USH1B; 276903), 11p (USH1C; 176904), and 1q32 (USH2; 276901). Using highly polymorphic microsatellite markers for a systematic search for the USH3 locus by genetic linkage analyses of 11 multiply affected families, Sankila et al. (1994, 1995) assigned the locus to 3q21-q25. Of 20 parental disease chromosomes, 15 had identical alleles at 3 marker loci covering a 3-cM genetic distance, including the putative USH3 locus. This was the fifth distinctive form of Usher syndrome to be identified . Although others had estimated USH3 comprises 2% of all Usher syndrome cases, based on clinical criteria, in Finland 42% of Usher syndrome patients showed progressive hearing loss.
Joensuu et al. (1996) typed a total of 32 pedigrees from a geographically isolated Finnish founder population for polymorphisms in the USH3 region of chromosome 3. By analysis of linkage disequilibrium and historical recombinations in 77 USH3 chromosomes, the location of the Finnish USH3 mutation was narrowed to an interval of approximately 1 cM between markers D3S1299 and D3S3625. The profilin-2 gene (PFN2; 76590) was mapped to the vicinity but was excluded as a candidate for USH3 by sequencing. The putative mouse homolog of PFN2 was mapped to mouse chromosome 3, thus suggesting a localization for the mouse homolog of USH3.
REFERENCES
1. Joensuu, T.; Blanco, G.; Pakarinen, L.; Sistonen, P.; Kaariainen, H.; Brown, S.; de
la Chapelle, A.; Sankila, E.-M. : Refined mapping of the Usher syndrome type III locus on
chromosome 3, exclusion of candidate genes, and identification of the putative mouse
homologous region. Genomics 38: 255-263, 1996.
PubMed ID : 8975700
2. Karjalainen, S.; Vartiainen, E.; Terasvirta, M.; Karja, J.; Kaariainen, H. : An
unusual otological manifestation of Usher's syndrome in 4 siblings. Adv. Audiol. 3: 32-40,
1985.
3. Sankila, E.-M.; Pakarinen, L.; Kaariainen, H.; Aittomaki, K.; Karjalainen, S.;
Sistonen, P.; de la Chapelle, A. : Assignment of an Usher syndrome type III (USH3) gene to
chromosome 3q. Hum. Molec. Genet. 4: 93-98, 1995.
PubMed ID : 7711740
4. Sankila, E.-M.; Pakarinen, L.; Sistonen, P.; Aittomaki, K.; Kaariainen, H.; Karjalainen, S.; de la Chapelle, A. : The existence of Usher syndrome type III proven by assignment of its locus to chromosome 3q by linkage. (Abstract) Am. J. Hum. Genet. 55 (suppl.): A15 only, 1994.
5.Smith, R. J. H.; Pelias, M. Z.; Daiger, S. P.; Keats, B.; Kimberling, W.; Hejtmancik,
J. F. : Clinical variability and genetic heterogeneity within the Acadian Usher
population. Am. J. Med. Genet. 43: 964-969, 1992.
Die folgenden Ausführungen können im Internet unter dem Stichwort "Usher
Bibliographie" mit Hilfe der Suchmaschine "infoseek" aufgerufen werden
The National Information Clearinghouse On Children Who Are Deaf-Blind
Usher Bibliography - Screening
Current Screening Procedures for the Usher Syndrome at Residentials Schools for the
Deaf / Day, C.W. 1982. AAD, February 1982, pp. 45-48. The purpose of the study was to
determine how many residential schools for the deaf are currently screening their student
for Usher Syndrome and how many of these school offer support services to identified Usher
Syndrome students and their families.Forty schools responded.Residential schools were
chosen because they have a large concentration of high-risk individuals, the congenitally
deaf. The results indicated that 53% of the schools that responded are screening students
for Usher Syndrome.Eighty-four percent of the identified students were older than 12
years, and 81% had a profound hearing loss. One-half of the schools with screening
programs offered some support services: personal counseling, genetic counseling,
curricular modifications, and vocational counseling.
A Deaf Person's Adjustment to Usher's Syndrome / Roehrig, A.A.-- Washington, DC:
Gallaudet College Press, 1983. Length: 20. This brochure, published by Gallaudet College,
offers a general overview of Usher Syndrome, definitions, cause, screening procedures,
person vignettes, implications for education and employment, and social and emotional
development. It describestraining and aids that lead to independence with cautions to
allow the individual with Usher Syndrome to learn at their own pace and as they are
psychologically able. Last four pages lists resources. This and other publications are
available from Gallaudet College Press, 800 Florida Ave, NE, Washington, DC 20002.
Effective Visual Screening of the Hearing Impaired / Walters, James W.-- MD: 1978. American Annals of the Deaf, May 1878. pp.400-405. Usher Syndrome is present in 3-6% of the deaf population, and half of deaf-blindness is a result of the disease.There are a number of appropriate procedures for visual screening in a population of hearing impaired individuals.Walters discusses these screening procedures in this article.
Information About Usher Syndrome / Alaska Usher Syndrome Project.-- Alaska: Alaska
Center for Blind and Deaf Adults, Deaf-Blind Affiliation Program and Special Education
Service Agency, Alaska Services for Children and Youth with Dual Sensory Impairments,
1993. Length: 21. Brochure describes basic information about Usher syndrome, screening
information, risk factors, symptoms and lists local and national resources.
Letter to D. Jay Gense.: Chair, Deaf-Blind Working Group. / Weleber, Richard G.-- OR:
1992. Length: 3. Letter on value of screening for children who are deaf for retinitis
pigmentosa as part of Usher's Syndrome. Best screening time is from ages 9-12. Costs of
exams, what the patient can expect, screening programs in Oregon, and recommendations.
Questionnaire: Vision Screening Project for Deaf and Hard-Of-Hearing Students / Vision
Screening Project Sensory Genetics/Neuro-development. -- Bloomington, MN: nd. Length: 4.
Copy of the questionnaire developed by the Vision Screening Project for Deaf and
Hard-Of-Hearing Students.
Screening for Usher Syndrome among Deaf and Hard-of-hearing Students / Davenport,
Sandra L.H., M.D. -- Pittsburgh: TRACES, 1995. Length: 16pp. The article describes the
characteristics of Usher Syndrome and suggests screening techniques. Includes screening
forms: USHER screening check sheet, flowchart of symptom characteristics, family
questionnaire, behavioral observations, dark adaptation screening, field screening,
student questionnaire, health history, and Usher and vision screening data. I. USHER
Syndrome Conference.
Screening for Vision Problems, Including Usher's Syndrome, Among Hearing Impaired
Students / Fillman, R.; Leguire, L.E.; Rogers, G.L.; Bremer, D.L.; Fellows, R.R.--
Maryland: 1987. American Annals of the Deaf, July 1987, 132:3, pp. 194-198. Article
emphasizes the importance of screening for vision problems and for Usher Syndrome among
hearing impaired students and to provide an outline of a vision screening program in
central Ohio. The screening program utilizes a dilated opthamological exam and an
electroretinogram (ERG), recorded with EEG skin electrodes, for the detection of vision
problems and particularly Usher's Syndrome.The program also involves an interagency
network of school, health care and support personnel to meet the needs and follow-up care
of students identified with vision problems.The initial vision screening of 210 hearing
impaired students, from residential and public school programs, revealed that 44 percent
have significant vision problems, and that approximately 1 to 2 percent have Usher's
Syndrome.ERIC number EJ 372 134.
Screening of School-Aged Hearing Impaired Children / Rogers, G.L.; Fillman, R.D.;
Bremer, D.L.; Leguire, L.E. 1988. Journal of Pedriatric Opthalmology & Strabismus,
September/October 1988, Volume 25, Number 5, pp. 230-232. Three hundred sixty
hearing-impaired students were screened for visual problems, including Usher's syndromw,
with a complete opthamological exam and electroretinography (ERG).Over 25% were found to
have a significant refractive error, and approximately 32% had one or more pathological
findings. Overall 43% either had a significant refractive error or pathological
finding.The incidence of Usher's syndrome was estimated to be between 1.1% and 1.9% in the
hearing impaired student population. The results emphasize the need fora complete
opthalmologic examination, and possible ERG testing, in the hearing impaired student
population.
Usher's Syndrome: Some Facts You Should Know-- Washington, D.C. Gallaudet University,
n.d. Length: 8. This article describes the Usher Syndrome, its causes, and some of the
symptoms and signs of Usher. Attached to the description is a personal statement,
"Coping with the Discovery of Usher's Syndrome," written by Arthur A. Roehrig,
who has Usher Syndrome. I. Screening for Usher's published by Gallaudet.
Usher Syndrome Screening Forms / Alaska Center for Blind and Deaf Adults Deaf-Blind
Affiliation Program; Special Education Service Agency Alaska Services for Children and
Youth with Dual Sensory Impairments. 1994. Length: 7. Forms to be used by schools for
screening for Usher Syndrome.Included are a family questionnaire, a list of low risk
causes, behavioral observation checklist, dark adaptation procedure, and peripheral vision
screening.
Vision Screening Project for Deaf And Hard-of-Hearing / Davenport, Sandra L.H. 1992. Length: 11. Summary of screening done in Minnesota and North Dakota including chart of