视网膜色素变性发病机制及治疗进展

Research advances on pathogenesis and treatment of retinitis pigmentosa

视网膜色素变性(retintis pigmentosa,RP)是指以进行性感光细胞及色素上皮功能丧失为共同表现的遗传性、退行性的疾病,RP是主要的致盲性眼病。其遗传方式包括X连锁遗传、常染色体隐性或者显性遗传,也有散发。临床表现为典型的三联征骨细胞样色素沉着、视网膜血管缩窄和视盘蜡样苍白。RP具有高度的基因异质性(多个突变位点引起同一疾病)及表型异质性。本文对RP的发病机制和治疗方法进行简要综述。

Retinitis pigmentosa(RP)is a common genetic and degenerative disease that is characterized by the progressive degeneration of photoreceptor cells and retinal pigment epithelium(RPE),and it is one of the leading causes of blindness.The hereditary methods include X-linked inheritance,autosomal recessive or dominant inheritance,and there are also sporadic cases.There are three typical clinical features of RP bone spicule pigmentation,attenuation of retinal vessels,and waxy pallor of optic nerve.RP has a high degree of gene heterogeneity(multiple mutation sites can cause the same disease)and phenotypic heterogeneity.In this article,we briefly review the pathogenesis and treatment of RP.