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Progress of gene research on autosomal recessive retinitis pigmentosa

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Author:: No author available

Journal Title:: International Eye Science

Issue:: 12

DOI:: 10.3980/j.issn.1672-5123.2019.12.13

Key Word:: 视网膜色素变性;常染色体隐性;基因;研究进展

Abstract：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.

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