title: Usher syndrome: an otoneurologic study.
abstract: Usher syndrome is an autosomal recessive disorder characterized by severe hearing loss or deafness and retinitis pigmentosa. Eleven families with 25 affected members were studied. The test battery included genetic studies, clinical examination, audiological, ophthalmologic, and otoneurological tests, and magnetic resonance imaging. Sixteen affected persons had profound hearing loss or were considered anacusic, with absent bilateral vestibular responses. These patients had varying degrees of retinitis pigmentosa. These 16 patients were considered to have type I Usher syndrome. Nine persons were diagnosed as Usher type II with a moderate to profound hearing loss, normal vestibular function, and retinitis pigmentosa of varying degree. Magnetic resonance imaging was normal in all cases. Otoneurological tests indicated no central nervous system disturbances. The conclusion is that hearing loss and balance problems in Usher syndrome are due to inner ear damage with no evidence of central nervous system disturbances. Furthermore, the ataxia seen in Usher type I is due to a combination of retinitis pigmentosa and bilateral peripheral vestibular deficiency.
authors.affiliation: Boys Town National Institute for Communication Disorders in Children, Omaha, Neb.
authors.forename: C G
authors.initials: CG
authors.lastname: Möller
authors.forename: W J
authors.initials: WJ
authors.lastname: Kimberling
authors.forename: S L
authors.initials: SL
authors.lastname: Davenport
authors.forename: I
authors.initials: I
authors.lastname: Priluck
authors.forename: V
authors.initials: V
authors.lastname: White
authors.forename: K
authors.initials: K
authors.lastname: Biscone-Halterman
authors.forename: L M
authors.initials: LM
authors.lastname: Odkvist
authors.forename: P E
authors.initials: PE
authors.lastname: Brookhouser
authors.forename: G
authors.initials: G
authors.lastname: Lund
authors.forename: T J
authors.initials: TJ
authors.lastname: Grissom
mesh_terms: D000293:Adolescent; D000328:Adult; D001284:Atrophy; D001300:Audiometry, Evoked Response; D001933:Brain Stem / Q000503:physiopathology; D002531:Cerebellum / Q000473:pathology / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D005260:Female; D006311:Hearing Disorders / Q000503:physiopathology*; D006320:Hearing Tests; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D012174:Retinitis Pigmentosa / Q000503:physiopathology*; D013577:Syndrome; D014724:Vestibular Function Tests; D014786:Vision Disorders / Q000503:physiopathology*; D014787:Vision Tests