The National Information Clearinghouse On Children Who Are Deaf-Blind
Assignment of an Usher Syndrome Type III (USH3) Gene to Chromosome 3q: Sankila, Eeva-Marja;Pakarinen, Leenamaija;Kaariainen, Helena;Aittomaki, Kristiina;Karjalainen, Seppo;Sistonen, Pertti;de la Chapelle, Albert. Oxford University Press, HUMAN MOLECULAR GENETICS, vol. 4, #1, 1995, pp.93-98, 1995. The three types of Usher Syndrome are discussed. Usher III (USH3) differs from Usher II (USH2) by the progressive nature of its hearing loss and has been previously estimated to comprise 2% of Usher patients. The authors' data suggests that 42% of Usher patients in Finland have progressive hearing loss suggesting enrichment of an USH3 gene, mapped to chromosome 3q. Their findings prove the existence of USH3 as a distinct entity, pinpoint a 5th USH locus, and suggest enrichment of a major mutation in the isolated Finnish population.
Audiometric Identification of Carriers of Genes for Autosomal Recessive Hearing Loss: Looking for possible carriers of Usher Syndrome / Newton, Valerie. US Families Vol. 7, No. 2, Summer 1996, p. 4, 1996. Short report about a research study that involves testing the parents of children with Usher Syndrome, Pendred's Syndrome, non-syndromal autosomal recessive hearing loss and hearing los of unknown origin for evidence of a slight hearing loss not detectable by standard hearing tests. If a slight hearing loss, depicted by a "dip" in the audiogram, could be linked to carrying a particular gene then this infomation would be useful for genetic counselling.
Clinical and Molecular Genetics of Usher Syndrome: Kimberling, William J.;Moller, Claes. JOURNAL OF AMERICAN ADACEMY OF AUDIOLOGY, vol. 6, no. 1, January 1995, pp. 63-72, 1995. Usher syndrome is an autosomal-recessive disorder manifested by hearing impairment, retinitis pigmentosa, and variable vestibular deficit. Recent progress in the characterization of the genetics of Usher syndrome has shown that this disorder is phenotypically and genetically complex. This progress impacts the approach of the clinicians in the study of patients who may potentially have Usher syndrome. There are three major phenotypic classes: Usher I, II, and III. Usher I is distinguished from User II by having a more severe audiologic involvement and by the presence of vestibular areflexia. Usher III has a progressive hearing loss with variable vestibular involvement. A minimum of three genes have been identified as being responsible for Usher I; two have been identified as being responsible for Usher II. It is not yet clear whether other manifestations such as progressive hearing loss, associated mental retardation, or other physical anomalies are associated with the known Usher genes or whether they represent as yet undiscovered genetic disorders. As progress towards the identification of the Usher genes is made, the clinician will gradually gain new and effective diagnostic procedures for identification and delineation of the Usher syndromes.
Clinical Diagnosis of the Usher Syndromes: 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. AMERICAN JOURNAL OF MEDICAL GENETICS, 50, 1994, pp. 32-28., 1994. The Usher syndromes are genetically distinct disorders which share specific phenotypic characteristics. This paper describes a set of clinical criteria recommended for the diagnosis of Usher syndrome type I and Usher syndrome type II. These criteria have been adopted by the Usher Syndrome Consortium and are used in studies reported by members of this Consortium.
Cochlear Implants in People Who Are Deaf-Blind: Chute, P. M.;Nevins, M. E. JOURNAL OF VISUAL IMPAIRMENTS AND BLINDNESS, May-June 1995, pp. 297-301., 1995. The debate over providing cochlear implants for children continues. This article describes the evaluation process used by the Manhattan Eye, Ear and Throat Hospital to determine if a child is a good candidate for a cochlear implant. The article then goes on to discuss the effects of cochlear implants on the lives of three deaf-blind children.
Cochlear Implants in Young Children with Usher's Syndrome: Young, N. M.;Johnson, J. C.;Mets, M. B.;Hain, T. C. ANNALS OF OTOLOGY, RHINOLOGY ∓ LARYNGOLOGY, Suppl. 166, no. 9, part 2, September 1995, pp. 342-345., 1995. The purpose of this paper is twofold: (1) to review the most recent results in children with severe to profound sensorineural hearing loss who were evaluated for Usher syndrome at the Children's Memorial Medical Center at Northwestern University and (2) to review the progress of 4 patients with Usher syndrome who received cochlear implants at the center. The paper concludes with the recommendation that all children with severe to profound sensorineural hearing loss of uncertain cause be screened for Usher. The authors also state that children with Usher syndrome can derive significant benefits from cochlear implantation.
Defective Myosin VIIA Gene Responsible for Usher Syndrome Type 1B: Weil, Dominique;Blanchard, Stephane;Kaplan, Josseline;Guilford, Parry;Gibson, Fernando;Walsh, James;Mburu, Philomena;Varela, Anabel;Levilliers, Jacqueline;Weston, Michael D.;Kelley, Phillip M.;Kimberling, William J.;Wagenaar, Mariette;Levi-Acobas, Fabienne;Larget-Piet, Dominique;Munnich, Arnold;Steel, Karen P.;Brown, Steve D. M.;Petit, Christine. NATURE, vol. 374, March 2, 1995, pp. 60-61., 1995. This article describes research identifying the gene responsible for Usher 1B.
Different Types of Usher Syndome: Five Genes Recognized for Usher Type I / Davenport, Sandra L. H., M.D. DEAFBLIND INQUIRER, vol. 2, #1, Winter 1997, p.6, 1997. In this brief article, Dr. Davenport reviews the latest information about the different types of Usher syndrome. There are currently five genes identified for Usher type I and one each for the other two types. Characteristics of each type and ethnic origin of specific genes are discussed. Dr. Davenport suggests researchers are looking for "unusual" cases in which there are at least two people with Usher in the same family: i.e., any person with Usher who has progressive hearing loss, deaf parents, and unusual audiograms, or who is hard of hearing and has inner ear balance problems. Also of interest is any family in which the people with Usher are not brothers and sisters, but, rather, are cousins or related as mother-son, uncle-niece, etc. In the event a subject is interesting in participating in a study, Dr. Davenport volunteers to put them in touch with the appropriate researchers.
Early Diagnosis of Usher Syndrome in Infants and Children: Young, Nancy M.;Mets, Marilyn B.;Hain, Timothy C. THE AMERICAN JOURNAL OF OTOLOGY, vol. 17, #1, 1996, pp.30-34, 1996. The benefits of early diagnosis of Usher Syndrome are discussed. These benefits include timely genetic counseling, early intervention for accommodation to progressive visual impairment, and the option of having a child undergo cochlear implanation at a young age, when maximum benefit can result. The electroretinogram (ERG) is the only test currently available that has the potential to identify patients with retinitis pigmentosa before onset of fundoscopic and visual abnormalities. This test is described. A group of 47 children with sensorineural hearing loss were evaluated via ERG and 5 were found to have Usher Syndrome. They were subsequently fitted with cochlear implants. The authors recommend that all newly identified children with bilateral severe to profound sensorineural hearing loss undergo ERG testing.
Fine Mapping of the Usher Syndrome Type IC to Chromosome 11p14 and Identification of Flanking Markers by Haplotype Analysis: Ayyagari, R.;Li, Y.;Pelias, M. Z.;Hejtmancik, J. F. Internet, http://www.molvis.org/molvis/Ayyagari_95002/ayyagari.html/, 11-Jul-1996. This article describes the research which isolated the gene causing Usher syndrome type I in French-Acadian people in Louisiana.
Genetics Comment: Davenport, Sandra. ABOUT US, vol. 3, no. 1, Spring 1995, pp. 9-10, 1995. This is a follow-up article to Kathy Anderson's "My Journey to Genetics." It details the qualities of Usher genes that result in Usher Syndrome.
Influence of Birth Control Pill on RP: Sorensen, Niels Henrik. Internet, Deafblind List, 1995. Sharing of information relating the reasons for possible influence of birth control pills on the vision of those with retinitis pigmentosa.
International Consortium Cracks Genetic Defect That Causes Deaf-Blindness: Colorado Services for Children Who Are Deaf-Blind. VIBRATIONS, Spring 1995, p. 6., 1995. This article announces the discovery of the Usher 1 gene and then goes on to identify the importance of this discovery to those affected with Usher Syndrome type 1. The article notes the stages in genetic research and the fact that this discovery puts the researchers at stage 3 of the 4-stage process in a search for treatment.
International Consortium Uncovers Usher 1 Gene: FIGHTING BLINDNESS NEWS, Spring/Summer 1995, p. 5., 1995. This article describes the discovery of a gene defect that results in Usher 1 in human beings. The article also describes the international consortium in charge of the research.
Letter for Usher Syndrome Type 1B: Board, Jim;Gouras, Peter. Internet, 1996. Letter concerns a therapeutic trial to attempt to stop the progression of retinitis pigmentosa in Usher syndrome Type IB which involves the transplantation of healthy RPE cells.
Literature Review: ADVANCES IN THE GENETICS OF DEAFNESS: A BULLETIN OF THE NIDCD HHIRR, Vol. 2, No. 1, Autumn 1995, pp. 5-7., 1995. A listing of recent publications related to the genetics od deafness. Articles are grouped under five major categories: Reviews, Clinical Reports, Genetic Epidemiology, Gene Location, Molecular Genetics and Other. Review articles identified include a review of Alport syndrome and the clinical and molecular genetics of Usher syndrome. Clinical reports include an article describing schizophrenia and mental retardation associated in a pedigree with retinitis pigmentosa and sensorineural deafness. Genetic Epidemiology includes an article about Usher syndrome type 3 in Finland.
The Ophthalmological Course of Usher Syndrome Type III: Pakarinen, Leenamaija;Tuppurainen, Kaija;Laippala, Pekka;Mantyjarvi, Maija;Puhakka, Heikki. INTERNATIONAL OPHTHALMOLOGY, vol. 19 1996, pp.307-311, 1996. The course of visual handicap and typical refractive errors in 229 Finnish persons who have Usher syndrome type III (USH3) is described and compared with those characteristic of other USH types. Three known distinct phenotypes and five genotypes of Usher exist. USH3, although common in Finland and comprising over 40% of Usher cases there, is considered rare (a few percent) in the total Usher population.
Researcher Releases Unpublished Results of Human Retinal Transplants: Hoglund, Tom. A Newsletter for Friends of The Foundation Fighting Blindness, January 1997, pp.1-4, 1997. Retinal transplants are discussed. Results of experimental fetal retinal cell transplants on eight patients with macular degeneration or retinitis pigmentosa (RP) by Dr. Manuel del Cerro of the University of Rochester are summarized. Four of the eight patients experienced slight measurable visual improvement. Also discussed is an experimental transplant of 14 patients with age-related macular degeneration (AMD) in Sweden with fetal retinal pigmented epithelium (RPE) cells by Dr. Peep Algvere and Dr. Peter Gouras. Dr. Henry Kaplan of Washington University in St. Louis is investigating the use of transplants of photoreceptor cells harvested from the retinas of adult organ donors.
Retinal Hemodynamics in Retinitis Pigmentosa: Grunwald, Juan E., M.D.;Maguire, Albert M., M.D.;Dupont, Joan. AMERICAN JOURNAL OF OPHTHALMOLOGY, vol. 122, #4, October 1996, pp.502-508, 1996. This study of eight individuals with RP, or retinitis pigmentosa, indicates that retinal blood flow is significantly reduced in patients with RP, possibly as a result of vascular remodeling in response to reduced metabolic demand. Further studies are needed in order to determine how early in the disease process these changes occur and how they correlate with severity of disease, extent of photoreceptor degeneration, or both. Measurements of retinal hemodynamics may be of use in monitoring the progression of the disease and the effects of therapy.
Retinal Transplantation Research Offers Hope for AMD, RP, and Usher Syndrome: VISION ENHANCEMENT, vol. 1, #3, pp.16-19, 1996. In this Medical/Science column from "Vision Enhancement," the work of the three teams who have taken the lead in retinal cell transplantation surgery, currently the most promising therapeutic approach in arresting and reversing the progression of retinal degenerations, is discussed. Mention of RPE (retinal pigment epithelium) layer and RPE transplantation, AMD (Age Related Macular Degeneration), Usher syndrome, gene therapy, trophic factors, and usefulness of the scanning laser opthamoscope (SLO) is included.
RPE Transplantation: Gouras, Peter. RETINAL NEWSLETTER, vol. 5, no. 2, November 1995, pp. 1-4., 1995. This issue discusses the possibilities of saving sight via RPE transplants. Gene therapy and Usher TypeIB are among the topics discussed. Electronic retinas, thalidomide treatment, and photoreceptor transplants are also discussed.
Scientists Discover Gene Causing Usher Syndrome: Group Includes Boys Town National Research Hospital / Boys Town National Research Hospital. Internet, 1995. This article announces the publication of a report on research that has resulted in the identification of the gene responsible for Usher Syndrome Type Ib. The report has been published in the journal Nature.
Some results of cochlear implants in 4 persons with usher's syndrome type I: Paper given at Low Vision Congress, Groningen, Holland, July 1993 / Vermeulen, L.;Dijk, Jan van;Broek, P. v.d. 1993.
Spotlight On: Ten Syndromes Most Commonly Associated with Hearing Impairment: Schaefer, G.B., M.D. ADVANCES IN THE GENETICS OF DEAFNESS, A Bulletin of the NIDCD HHIRR, Vol. 2, No. 1, Autumn 1995, pp. 2-4., 1995. Dr Schaefer sorted through information gathered over the past five years in the clinical database to identify the most common diagnoses in patients who have hearing loss and "something else".The list of the ten most common syndromes that have hearing loss includes: Hemifacial microsomia (Goldenhar Syndrome), Stickler Syndrome, Congenital Cytomegalo Virus, Usher Syndrome, Branchio-oto-renal Syndrome(BOR), Pendred Syndrome, CHARGE Association, Neurofibromatosis Type II, Mitochondrial Disorders, and Waardenburg Syndrome. Incidence and prevalence, common features, hearing loss and additional comments are described for each syndrome.
Study Shows Vitamin A Slows Blindness: RP Foundation Launches Worldwide Education Campaign / RP Foundation Fighting Blindness. RP Foundation Fighting Blindness News, June 14, 1993, 1993. This announcement advocates taking 15,000 IU of vitamin A (and avoiding high doses of vitamin E) as the first useful treatment that may help people with RP to prolong their vision. Patients and health care professionals are advised to contact the RP Foundation for complete information at 1-(800) 683-5555.
Types of Usher Syndrome: 1995. This a comparison chart of the three types of Usher Syndrome. Topics treated are hearing loss, balance, vision loss from RP, and chromosome location of gene.
Usher and Nerve Pain: Internet, Usher List, 1997. This is a collection of responses to a question about whether nerve pain is a symptom of Usher Syndrome. Most responses were from people with Usher Syndrome. Includes a response from William Kimberling of Boys Town.
Usher's Syndrome Type 3 in Finland: Pakarinen, L.;Karjalainen, S.;Simola, K.O.J.;Laippala, P.;Kaitalo, H. LARYNGOSCOPE, vol. 105, June 1995, pp.613-617, 1995. The authors report that Usher's Syndrome Type 3, which is characterized by progressive hearing loss and thought to be rare (occurring in 2-4% of all patients with Usher's syndrome), was present in 40% of 229 patients involved in a study in Finland. The three types of Usher are distinguished: USH1 in which hearing loss is profound and vestibular function extinct; USH2 in which loss is moderate to severe and vestibular function normal; and USH3 in which hearing loss is progressive and vestibular function normal. The main purpose of the study was to investigate the proportions of the different types of Usher with special attention to the progression of hearing impairment in a large, nationwide collection of patients.
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