Usher Syndrome Type I

Bronya Keats, Jennifer J Lentz

    Research output: Contribution to journalArticle

    Abstract

    SUMMARY Disease Characteristics: Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. Unless fitted with a cochlear implant, individuals do not typically develop speech. Retinitis pigmentosa (RP), a progressive, bilateral, symmetric degeneration of rod and cone functions of the retina, develops in adolescence, resulting in progressively constricted visual fields and impaired visual acuity
    Original languageEnglish
    JournalGeneReviews
    Volumehttp://www.genetests.org
    Publication statusPublished - 2010

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