Article
Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene.
Molecular vision - 7 Jun 2007
Li Xiaoxin, Ma Xiang, Tao Yong
Abstract excerpt
PURPOSE: To describe the clinical phenotype of X linked juvenile retinoschisis (XLRS) in 12 Chinese families with 11 different mutations in the XLRS1 (RS1) gene. METHODS: Complete ophthalmic examinations were carried out in 29 affected males (12 probands), 38 heterozygous females carriers, and 100 controls. The coding regions of the RS1 gene that encodes retinoschisin were amplified by polymerase chain reaction...
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