TY - JOUR
T1 - Usher syndrome type III can mimic other types of Usher syndrome
AU - Pennings, Ronald J.E.
AU - Deutman, August F.
AU - Fields, Randall R.
AU - Kimberling, William J.
AU - Huygen, Patrick L.M.
AU - Cremers, Cor W.R.J.
N1 - Funding Information:
From the Departments of Otorhinolaryngology (Pennings, Huygen, Cremers) and Ophthalmology (Deutman), University Medical Centre St Radboud, Nijmegen, the Netherlands, and the Genetics Department, Boys Town National Research Hospital, Omaha, Nebraska (Fields, Kimberling). The clinical part of this study was supported by grants from Forschung Contra Blindheit and the Heinsius Houbolt Foundation (to C.W.R.J.C). The genetic part of this study was supported by National Institutes of Health grant NIH/NIDCD P01 DC01813, the Foundation Fighting Blindness, and the Morris J. and Betty Kaplun Foundation (to W.J.K.). 6 2003 112 6 525 530 © 2003 SAGE Publications 2003 SAGE Publications
PY - 2003/6/1
Y1 - 2003/6/1
N2 - 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.
AB - 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.
KW - Hearing impairment
KW - Pigmentary retinopathy
KW - Retinitis pigmentosa
KW - Retinitis pigmentosa sine pigmento
KW - Retinitis punctata albescens
KW - Tapetoretinal degeneration
KW - USH3
KW - Usher syndrome
KW - Usher syndrome type III
KW - Vestibular impairment
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U2 - 10.1177/000348940311200608
DO - 10.1177/000348940311200608
M3 - Article
C2 - 12834121
AN - SCOPUS:0038516485
SN - 0003-4894
VL - 112
SP - 525
EP - 530
JO - Annals of Otology, Rhinology and Laryngology
JF - Annals of Otology, Rhinology and Laryngology
IS - 6
ER -