Usher syndrome type III can mimic other types of Usher syndrome

Ronald J.E. Pennings, August F. Deutman, Randall R. Fields, William J. Kimberling, Patrick L.M. Huygen, Cor W.R.J. Cremers

    Research output: Contribution to journalArticlepeer-review

    27 Scopus citations

    Abstract

    Clinical and genetic characteristics are presented of 2 patients from a Dutch Usher syndrome type III family who have a new homozygous USH3 gene mutation: 149-152delCAGG + insTGTCCAAT. One individual (IV:1) is profoundly hearing impaired and has normal vestibular function and retinitis punctata albescens (RPA). The other individual is also profoundly hearing impaired, but has well-developed speech, vestibular areflexia, and retinitis pigmentosa sine pigmento (RPSP). These findings suggest that Usher syndrome type III can be clinically misdiagnosed as either Usher type I or II; that Usher syndrome patients who are profoundly hearing impaired and have normal vestibular function should be tested for USH3 mutations; and that RPA and RPSP can occur as fundoscopic manifestations of pigmentary retinopathy in Usher syndrome.

    Original languageEnglish (US)
    Pages (from-to)525-530
    Number of pages6
    JournalAnnals of Otology, Rhinology and Laryngology
    Volume112
    Issue number6
    DOIs
    StatePublished - Jun 1 2003

    Keywords

    • Hearing impairment
    • Pigmentary retinopathy
    • Retinitis pigmentosa
    • Retinitis pigmentosa sine pigmento
    • Retinitis punctata albescens
    • Tapetoretinal degeneration
    • USH3
    • Usher syndrome
    • Usher syndrome type III
    • Vestibular impairment

    ASJC Scopus subject areas

    • Otorhinolaryngology

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