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视网膜色素变性(RP)是视网膜光感受器细胞和色素上皮细胞变性导致夜盲和进行性视野缺损的一组具有临床亚型的遗传性致盲眼底病。在遗传方式上RP可有多种不同的类型:常染色体显性或隐性遗传、X染色体连锁遗传和散发型。该文对X连锁型视网膜色素变性(XLRP)的分子遗传学研究进展予以综述。
Retinitis pigmentosa (RP) is a group of clinically sub-type hereditary blinding fundus diseases that degenerate retinal photoreceptor cells and pigment epithelial cells leading to night blindness and progressive visual field defects. There are many different types of RP that can be inherited: autosomal dominant or recessive, X-linked and inherited. This review summarizes the molecular genetic studies of X-linked retinitis pigmentosa (XLRP).