摘要
先天性静止性夜盲(CSNB)是一组具有不同遗传方式的视网膜病变,具有特征性的临床和视觉电生理表现。已有5个致病基因被确定。笔者就CSNB的临床、电生理和分子遗传学进行了综述。
Congenital stationary night blindness (CSNB) is a group of genetically heterogeneous retinopathy with characterized clinical and visual electrophysiological abnormality. Five candidate genes associated with the disease have been identified. Clinical, electrophysiological and molecular genetics about CSNB are reviewed in this paper. (Chin J Ophthalmol , 2006, 42: 472-475)
出处
《中华眼科杂志》
CAS
CSCD
北大核心
2006年第5期472-475,共4页
Chinese Journal of Ophthalmology
关键词
夜盲
遗传性疾病
先天性
电生理学
基因
Night blindness
Genetic diseases, inborn
Electrophysiology
Gene