Usher's syndrome. Ophthalmic and neuro-otologic findings suggesting genetic heterogeneity.
The conditions of 70 patients with Usher's syndrome were studied by ophthalmic and neuro-otologic examinations. Two distinct clinical and presumed genetic types were discernible on the basis of differences in hearing impairment, vestibular sensitivity, and, to a lesser extent, deterioration in retinal photoreceptor function. Distinguishing these two types has relevance for both diagnosis and genetic counseling of patients with Usher's syndrome.
D000293:Adolescent; D000328:Adult; D000368:Aged; D001299:Audiometry; D002648:Child; D004596:Electroretinography; D005260:Female; D006311:Hearing Disorders / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009755:Night Blindness / Q000175:diagnosis / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome; D014724:Vestibular Function Tests; D058609:Visual Field Tests