摘要
视网膜色素变性(RP)是遗传性致盲眼病,其患病率约为1/3500。该病目前尚无有效的预防和治愈方法。本文综述了RP分子遗传学的最新进展,着重对诊断和预后有价值的基因突变进行了总结,并归纳了RP基因治疗的新动向。
Retinitis pigmentosa (RP) is a common genetic eye disease affecting about 1 in 3500 people worldwide with pan-ethnic occurrence. So far there is no effective treatment for RP. This paper gives an overview on recent advances in molecular genetics of RP with emphasis on the important gene mutations for diagnosis and prognosis, and a review on gene therapy of RP.(Chin J Ophthalmol,2005,41:188-192)
出处
《中华眼科杂志》
CAS
CSCD
北大核心
2005年第2期188-192,共5页
Chinese Journal of Ophthalmology