常染色体隐性遗传视网膜色素变性的相关基因研究进展

视网膜色素变性(rentinitis pigmentosa，RP)是一种发病机制尚未完全明确的遗传性致盲性视网膜疾病，特征性表现为夜盲、进行性视野缩窄和视力下降，眼底可见骨细胞样色素沉着、视网膜血管变细和视盘蜡黄三联症。RP具有较大的遗传异质性和临床异质性，其中常染色体隐性遗传视网膜色素变性(autosomal recessive RP，ARRP)占RP的5%～20%，目前已定位43个致病基因，克隆了其中40个，并且不断有新的相关致病基因被报道。本文就近3a发现与ARRP相关的AGBL5、ARHGEF18、HGSNAT和ZNF408四个基因研究进展作一综述。

Progress of gene research on autosomal recessive retinitis pigmentosa

Retinal pigmentosa(RP)is a hereditary blinding retinal disease whose pathogenesis is not fully understand. It is characterized by night blindness, progressive narrowing visual field and vision decreased. Bone spicule-shaped pigment,retinal vessel attenuation and pallor optic disc can be seen at the fundus.RP is geneticallyand phenotypically heterogeneous, autosomal recessive retinitis pigmentosa accounts for 5%-20% of RP. There are 43 pathogenic genes have been mapped in autosomal recessive retinitis pigmentosa(ARRP), 40 of them have been cloned, and new related pathogenic genes have been reporting. This article reviewsthe newest progress of the research in AGBL5, ARHGEF18, HGSNAT and ZNF408 gene relevant to ARRP.