RPGR and retinitis pigmentosa 1: In the course of our routine geno-phenotyping practice conducted on RP probands with a provisional diagnosis of X-linked inheritance and his relatives, we have studied a non-consanguineous Italian family with one male affected by typical RP and four females suffering from bilateral high PM, identifying a novel frame-shift pathogenic variant in the mutational hot spot exon ORF15 of RPGR gene.