Abstract
PurposeTo report a novel missense mutation in the XLRS1 gene in a Korean family with X-linked retinoschisis.MethodsObservation case report of a family with a proband with X-linked retinoschisis underwent complete ophthalmologic examination. Genomic DNA was excluded from the family's blood and all exons of the XLRS1 gene were amplified by polymerase chain reaction and analyzed using a direct sequencing method.ResultsA novel Leu103Phe missense mutation was identified.ConclusionsA novel Leu103Phe mutation is an additional missense mutation which is responsible for the pathogenesis of X-linked retinoschisis.
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