Vestibular and auditory function in Usher's syndrome.
Usher's syndrome is a recessive hereditary disorder in which a congenital hearing loss is combined with nyctalopia, retinal degeneration, and restriction of visual fields. The results of a comprehensive ophthalmic and neurotologic study on 70 patients are reported. Two distinct clinical and presumed genetic types were discernible on the basis of hearing impairment and vestibular sensitivity and, to a lesser extent, deterioration of retinal photoreceptor function. Such a classification has proved valuable in diagnosis, prognosis, and genetic counselling.
D000293:Adolescent; D000328:Adult; D001299:Audiometry; D001307:Auditory Perception; D002560:Cerebrovascular Circulation; D004584:Electronystagmography; D005260:Female; D006257:Head / Q000000981:diagnostic imaging; D006319:Hearing Loss, Sensorineural / Q000145:classification / Q000150:complications / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D008297:Male; D009755:Night Blindness / Q000145:classification / Q000150:complications / Q000235:genetics / Q000503:physiopathology*; D012174:Retinitis Pigmentosa / Q000150:complications / Q000235:genetics; D013577:Syndrome; D014057:Tomography, X-Ray Computed; D014724:Vestibular Function Tests; D014794:Visual Fields