A Novel Mutation in the XLRS1 Gene in a Korean Family with X-linked Retinoschisis

Abstract

Purpose: To report a novel missense mutation in the XLRS1 gene in a Korean family with X-linked retinoschisis.

Methods: Observation 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.

Results: A novel Leu103Phe missense mutation was identified.

Conclusions: A novel Leu103Phe mutation is an additional missense mutation which is responsible for the pathogenesis of X-linked retinoschisis.