A Novel RPGR Exon ORF15 Mutation in a Family With X-linked Retiniti Pigmentoa and Coat’-like Exudative Vaculopathy

Purpoe To decribe the ophthalmic and genetic finding in a family with X-linked retiniti pigmentoa (RP) and Coat’-like exudative vaculopathy. Deign Obervational cae erie. Method Family member underwent comprehenive ophthalmologic examination. Leukocyte genomic DNA ample were obtained and creened for RPGR (RP3) mutation by direct polymerae chain reaction equencing. Reult The proband had RP with bilateral Coat’-like vaculopathy and wa treated with fluorecein-potentiated argon laer therapy. The finding in two other affected male patient and three obligate carrier female patient were within the clinical pectrum of a typical X-linked–receive RP. A novel nonene RPGR exon ORF15 mutation (912G>T) wa found to egregate with RP in thi family. Concluion Thi report expand the clinical heterogeneity pectrum caued by RPGR mutation and our knowledge concerning the molecular pathologic condition that pertain to Coat’-like RP. Conitent with the literature, Coat’ repone wa not oberved in all family member who were affected by RP, which ugget the involvement of other genetic and/or environmental factor.