Hong-Dou Luo1, Shao-Nan Pei1, Ai-Jia Wang1

  • 1Affiliated Eye Hospital of Nanchang University, Jiangxi Research Institute of Ophthalmology & Visual Science; Jiangxi Provincial Key Laboratory for Ophthalmology, Nanchang 330006, Jiangxi Province, China.

概括

一个罗多普辛 (RHO) 基因突变在一个家族中引起了视网膜色素炎 (RP),导致了像玻璃眼和视网膜分裂这样的并发症. 这项研究确定了特定的RHO突变及其相关的眼科疾病.