Phenotypic high myopia in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene

Abstract

A complete family history allowed determination of the inheritance pattern providing genetic counseling for patients and their families. The geno-phenotypic attributes of this heterozygosity suggest a correlation between RP and PM. This novel mutation would expand the mutation spectrum of RP2 and RPGR, and help to study molecular pathogenesis of RP.