Number: 93-EI-0161
Summary:
The purpose of this project is to document the clinical features of USH and to
refine the localization and eventually isolate the genes causing these diseases.
Included in the evaluation will be audiometric, vestibular, ophthalmoscopic and
electrophysiologic and electrodiagnostic testing. These clinical findings will be
used to help classify the features of the different types of USH as well as to
correlate the phenotypic features with the genetic mutation. To identify the gene
mutation we will study informative families, collecting blood specimens from all
available family members for studies utilizing molecular technology developed for
linkage analysis. In those cases where there are no other affected family members,
blood specimens will be obtained to study specific gene mutations when the
specific gene(s) for USH are identifiable.
Sponsoring Institute:
National Eye Institute (NEI)
Recruitment Detail
Type: Active Accrual Of New Subjects
Gender: Male & Female
Population Exclusion(s):
None
Eligibility Criteria:
Patients must have documentation of neurosensory hearing loss and retinitis
pigmentosa and fulfill the clinical characteristics (Table) as accepted for USH 1
and USH 2.
The minimal test battery will identify all patients with USH 1 and USH 2 as well
as possible subtypes.
Candidates will be recruited from lists of patients willing to participate in
research studies compiled by the R.P. Foundation, and by referral from their
private physicians.
On occasion additional family members will be studied after an initial individual
is ascertained as above.
No patients with intrauterine and childhood infections, and intrauterine and
birth complications can result in trauma to both the auditory or visual system and
a positive history for these conditions will necessitate exclusion from the
study.
Special Instructions:
Currently Not Provided
Disease Category:
Nervous System and Sense Organs
Keywords:
Linkage Analysis
Genomic DNA
Pedigree Analysis
usher Syndrome
usher Syndrome Type 1
usher Syndrome Type 2
Recruitment Keywords:
None
Investigational Drug(s):
None
Investigational Device(s):
None
Citations:
Lewis. 1990. Mapping recessive ophthalmic diseases: linkage of the locus for
usher syndrome type II to a DNA marker chromosome, Genomics, Vol.
7, p. 250
Kimberling. 1992. Linkage of usher syndrome type 1 to the long arm of
chromosome 11, Genomics, Vol. 14, p. 988
Smith. 1992. Localization of two genes for usher syndrome type 1 to
chromosome 11, Genomics, Vol. 14, p. 995
Original address of this page:
clinicalstudies.info.nih.gov
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