家族性双侧黄斑缺损

Familial bilateral macular colobomata.

作者信息

Miller S A, Bresnick G

出版信息

Br J Ophthalmol. 1978 Apr;62(4):261-4. doi: 10.1136/bjo.62.4.261.

DOI:10.1136/bjo.62.4.261

PMID:646986

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1043199/

Abstract

A mother and daugher had a life-long history of poor vision and photophobia, bilateral macular colobomata, and retinal pigment epithelial abnormalities; psychoelectrophysiological testing indicated extensive loss of cone or cone-rod function. These cases suggest this is a genetically determined condition unrelated to infection.

摘要

一位母亲和女儿有视力差和畏光的终生病史、双侧黄斑缺损以及视网膜色素上皮异常；心理电生理测试表明存在广泛的视锥细胞或视锥-视杆细胞功能丧失。这些病例表明这是一种与感染无关的基因决定的病症。