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Article

Phenotypic expression of X-linked retinoschisis in Chinese families with mutations in the RS1 gene.

Documenta ophthalmologica. Advances in ophthalmology - 1 Aug 2011

Xu Fei, Xiang Hang, Jiang Ruxin, Dong Fangtian, Sui Ruifang

Abstract excerpt

To assess the clinical features of and identify genetic defects in six Chinese families with X-linked retinoschisis (XLRS). Patients were recruited from ophthalmic clinics in Peking Union Medical College Hospital. A cohort of six unrelated families was identified. Clinical evaluation was performed on eight affected males (six probands) and five female carriers. Genomic DNA was extracted from peripheral...

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PMID: 21701876
DOI: 10.1007/s10633-011-9278-x

Genes

ERG

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