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.

Supplementary figure S1. Fluorescein angiographic findings of the parents. a, b, The right and left eyes of the father. c, d, The right and left eyes of the mother. No typical signs of FEVR are observed.

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Supplemental Digital Content is Available in the Text. We studied 46 eyes with Stickler syndrome using ultra-widefield fundus autofluorescence images. Abnormal autofluorescence lesions were found in 81% of the eyes that were associated with age-related alteration and visual field defects.

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