[关键词]
[摘要]
视黄醇脱氢酶5(RDH5)是NAD(H)依赖视网膜氧化酶，作为视觉周期中的一种关键酶，可以引发一系列酶促反应产生视色素从而实现光电信号转换，并参与视黄酸的形成等。RDH5基因突变后会导致酶的活性大大降低，甚至产生严重的遗传性视网膜病变，如白点状眼底、视网膜色素变性、白点状视网膜炎。本文将对近年来RDH5在视觉周期和遗传性视网膜疾病方面的研究进展进行简要综述。
[Key word]
[Abstract]
Retinol dehydrogenase 5(RDH5)is an NAD(H)retina-dependent oxidase. As a key enzyme in the visual cycle, it can initiate a series of enzymatic reactions to produce visual pigment, so as to achieve the conversion of photoelectric signal and participate in the formation of retinoic acid, etc. RDH5 mutation can greatly reduce the enzyme activity and even cause severe hereditary retinopathy, such as fundus albipunctatus, retinitis pigmentosa, and retinitis punctate albescens. In this paper, the research progress of RDH5 in visual cycle and hereditary retinal diseases in recent years is reviewed.
[中图分类号]
[基金项目]
四川省科技计划应用基础研究项目(No.2019YJ0381)
