A new clinical classification for Usher's syndrome based on a new subtype of Usher's syndrome type I

Christian R. Otterstedde, Ulrich Spandau, Anita Blankenagel, William J. Kimberling, Christoph Reisser

    Research output: Contribution to journalArticlepeer-review

    42 Scopus citations

    Abstract

    Objectives: Usher's syndrome is an autosomal recessive disorder characterized by sensorineural hearing loss and progressive visual loss secondary to retinitis pigmentosa. Usher's syndrome is both clinically and genetically heterogeneous. Three clinical types are known today. Methods: We conducted a study on 74 patients with Usher's syndrome, performing complete audiological and neurotological examinations. Results: Twenty-six patients had total profound hearing loss and retinitis pigmentosa (Usher's syndrome type I), and 48 patients had moderate to severe sensorineural hearing loss and retinitis pigmentosa (Usher's syndrome type II). We identified 9 of the 26 Usher's syndrome patients with profound hearing loss who showed a normal response to bithermal vestibular testing. Conclusions: The combination of profound hearing loss and normal response to bithermal vestibular testing has not been previously described in Usher's syndrome. Therefore we describe a new subtype of Usher's syndrome type I and suggest a modified clinical classification for Usher's syndrome.

    Original languageEnglish (US)
    Pages (from-to)84-86
    Number of pages3
    JournalLaryngoscope
    Volume111
    Issue number1
    DOIs
    StatePublished - 2001

    Keywords

    • Hereditary hearing impairment
    • Modified clinical classification
    • New subtype
    • Usher's syndrome
    • Vestibular system

    ASJC Scopus subject areas

    • Otorhinolaryngology

    Fingerprint

    Dive into the research topics of 'A new clinical classification for Usher's syndrome based on a new subtype of Usher's syndrome type I'. Together they form a unique fingerprint.

    Cite this