PURPOSE: To report two novel point mutations of the XLRS1 gene in two Japanese patients with X-linked juvenile retinoschisis. DESIGN: Observational case reports. METHODS: The exons, including the flanking introns of XLRS1, were amplified by polymerase chain reaction and analyzed by direct sequencing. RESULTS: One novel splice donor site mutation (IVS2 + 1g to a) and one missense mutation of exon 6 (Ala211Thr) were found. CONCLUSIONS: Genetic findings identifying mutations in the XLRS1 gene will lead to earlier and more accurate diagnosis of X-linked juvenile retinoschisis.
PURPOSE: To report two novel point mutations of the XLRS1 gene in two Japanese patients with X-linked juvenile retinoschisis. DESIGN: Observational case reports. METHODS: The exons, including the flanking introns of XLRS1, were amplified by polymerase chain reaction and analyzed by direct sequencing. RESULTS: One novel splice donor site mutation (IVS2 + 1g to a) and one missense mutation of exon 6 (Ala211Thr) were found. CONCLUSIONS: Genetic findings identifying mutations in the XLRS1 gene will lead to earlier and more accurate diagnosis of X-linked juvenile retinoschisis.