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Two cases of X‐linked juvenile retinoschisis with different optical coherence tomography findings and RS1 gene mutations
Author(s) -
Chan Wai Man,
Choy Kwong Wai,
Wang Jianghua,
Lam Dennis SC,
Yip Wilson WK,
Fu Weiling,
Pang Chi Pui
Publication year - 2004
Publication title -
clinical and experimental ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.3
H-Index - 74
eISSN - 1442-9071
pISSN - 1442-6404
DOI - 10.1111/j.1442-9071.2004.00820.x
Subject(s) - retinoschisis , exon , medicine , optical coherence tomography , gene mutation , gene , ophthalmology , genetics , mutation , biology , retinal , retinal detachment
The optical coherence tomography (OCT) findings, clinical features, and mutations in the RS1 gene of two unrelated patients with X‐linked retinoschisis (XLRS) are reported herein. Two Chinese patients with early onset XLRS were given a comprehensive ophthalmologic examination and OCT investigation. The RS1 gene was screened for sequence alterations in all exons and splice regions. The two patients presented with different phenotypic features and OCT findings. One patient with more severe clinical presentation had a RS1 exon 1 deletion and a P193S mutation was found in the other patient with mild macular involvement. OCT demonstrates the markedly different features of XLRS patients with different RS1 mutations. This study strengthens the role of OCT in the diagnosis and monitoring of XLRS.