Weleber R G, Tongue A C
Arch Ophthalmol. 1987 Mar;105(3):360-5. doi: 10.1001/archopht.1987.01060030080031.
Two siblings with autosomal-recessive congenital stationary night blindness were clinically blind in infancy. Both had markedly abnormal electroretinograms that, in the first child, led consultants at two university centers to make the diagnosis of Leber's congenital amaurosis. The patients had intermittent nystagmus and esotropia, but good photopic vision developed eventually. Scotopic vision was clearly defective in each child. Refractive error in both patients was close to emetropic in early infancy but became myopic by 1 year of age. Congenital stationary night blindness must be considered in the differential diagnosis of the blind infant.
两名患有常染色体隐性先天性静止性夜盲症的兄弟姐妹在婴儿期临床上就已失明。两人的视网膜电图均明显异常，第一个孩子的情况致使两个大学中心的会诊医生诊断其患有莱伯先天性黑蒙。患者有间歇性眼球震颤和内斜视，但最终获得了良好的明视觉。每个孩子的暗视觉明显有缺陷。两名患者在婴儿早期的屈光不正接近正视，但到1岁时变成了近视。在对失明婴儿进行鉴别诊断时，必须考虑先天性静止性夜盲症。
