视网膜色素变性(retinitis pigmentosa,RP)是一组变性性的视网膜病变,其临床表现和病情进展个体差异较大,典型者包括:(1)夜盲症;(2)周边视野缺损或环状暗点形成;(3)视网膜骨细胞样色素沉着,动脉变细;(4)晚期中心视力受累;(5)ERG异常或熄灭。本病具有明显的遗传倾向,可为常染色体显性、常染色体隐性或X性连锁隐性遗传。有关本病的临床表现、治疗原则以及遗传等方面已有诸多论述,本文仅就X性连视网膜色素变性(X-linked retinitis pigmentosa,以下简称XLRP)的一些特殊方面予以综述。一、一般特征 Retinitis pigmentosa (RP) is a group of degenerative retinopathy, and its clinical manifestations and progression of individual differences are large, typical include: (1) night blindness; (2) the peripheral visual field defects or ring-shaped dark spots ; (3) retinal osteoblast-like pigmentation, arteries thinning; (4) late central vision involvement; (5) ERG abnormal or extinguished. The disease has obvious genetic predisposition, autosomal dominant, autosomal recessive or X-linked recessive inheritance. The clinical manifestations, treatment principles and genetic aspects of the disease have been discussed, this article only on X-linked retinitis pigmentosa (XLRP) for some of the special aspects are reviewed. First, the general characteristics