Usher syndrome: An otoneurologic study

Claes G. Möller, William J. Kimberling, Sandra L.H. Davenport, Ira Priluck, Valorie White, Karen Biscone-Halterman, Lars M. Ödkvist, Patrick E. Brookhouser, Gunnar Lund, Timothy J. Grissom

    Research output: Contribution to journalArticlepeer-review

    96 Scopus citations

    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 atnxia seen in Usher type I is due to a combination of retinitis pigmentosa and bilateral peripheral vestibular deficiency.

    Original languageEnglish (US)
    Pages (from-to)73-79
    Number of pages7
    JournalLaryngoscope
    Volume99
    Issue number1
    StatePublished - Jan 1989

    ASJC Scopus subject areas

    • Otorhinolaryngology

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