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Case Reports
. 2003 Jun;112(6):525-30.
doi: 10.1177/000348940311200608.

Usher syndrome type III can mimic other types of Usher syndrome

Ronald J E Pennings  1 , Randall R Fields, Patrick L M Huygen, August F Deutman, William J Kimberling, Cor W R J Cremers
Affiliations
Case Reports

Usher syndrome type III can mimic other types of Usher syndrome

Ronald J E Pennings et al. Ann Otol Rhinol Laryngol. 2003 Jun.

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.

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