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X-linked congenital retinoschisis (XLRS) is an inherited retinal disorder characterized by reduced central vision and schisis of the macula and peripheral retina. XLRS is caused by mutations in the  RS1  gene. We have identified 37 different mutations in the  RS1  gene, including 12 novel mutations, in 67 Japanese patients from 56 XLRS families. We present clinical features of these patients in relation to the associated mutations.

Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis