期刊
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY
卷 112, 期 6, 页码 525-530出版社
ANNALS PUBL CO
DOI: 10.1177/000348940311200608
关键词
hearing impairment; pigmentary retinopathy; retinitis pigmentosa; retinitis pigmentosa sine pigmento; retinitis punctata albescens; tapetoretinal degeneration; USH3; Usher syndrome; Usher syndrome type III; vestibular impairment
资金
- NIDCD NIH HHS [P01 DC01813] Funding Source: Medline
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 piginento (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.
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