先天性视网膜色素变性有称先天性黑朦,1869年Leber氏首先描述,故又常称为Leber氏先天性黑朦,Leber氏毯样网膜发育不全综合征,亦有称视网膜神经上皮发育不全综合征等。国内首先有胡诞宁氏等报告34例,其后陈氏、谭氏均有报告。由于本病罕见,既往对它认识不清,国内报告较少。今将我们遇见二家系摘要报道如下。 Congenital retinitis pigmentosa congenital melasma, Leber’s first described in 1869, it is also often referred to as Leber’s congenital amaurosis, Leber’s carpet-like retinal hypoplasia syndrome, also known as retinal neuroepithelial hypoplasia Syndrome and so on. In the first instance, there were 34 cases of Hu Ning et al reported in the country, followed by Chen and Tan. Because of this rare disease, its previous understanding of it is unclear, fewer domestic reports. Now we meet two families Abstract is reported below.