Recent Developments on the major genes involved in retinitis pigmentosa

Abstract

Retinitis pigmentosa (RP) is a common retinal dystrophy that affects millions of individuals, of both sexes, worldwide. The age of onset and the phenotypic characteristics vary between patients of different ethnicities. It may be syndromic when it coexists with several syndromes, like Usher syndrome, or non-syndromic. It follows autosomal dominant, autosomal recessive or X-linked inheritance. RP is genetically heterogeneous with, approximately, one hundred genes identified to date. The present mini review includes articles about the pathogenesis of syndromic and non-syndromic RP. Eighty-seven papers written in English and published in the last decade, about the pathogenesis of RP were reviewed and analyzed in order to summarize and highlight the major genes implicated in RP. We identified more than 80 genes associated with syndromic and 30 genes with non-syndromic RP. Among them RHO and RPGR, followed by PRPH2, PRPF31 and RP2 are the major genes involved in RP.