Two cases of X-linked juvenile retinoschisis with different optical coherence tomography findings and RS1 gene mutations.

doi:10.1111/j.1442-9071.2004.00820.x

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Article

Two cases of X-linked juvenile retinoschisis with different optical coherence tomography findings and RS1 gene mutations.

Clinical & experimental ophthalmology - 1 Aug 2004

Chan Wai Man, Choy Kwong Wai, Wang Jianghua, Lam Dennis S C, Yip Wilson W K, Fu Weiling, Pang Chi Pui

Abstract excerpt

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...

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PMID: 15281981
DOI: 10.1111/j.1442-9071.2004.00820.x

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