家族性渗出性玻璃体视网膜病变的致病基因与相关信号通路研究进展  

Research progresses on pathogenic genes and related signal pathways of familial exudative vitreoretinopathy

作　　者：杨依柳 陆方[1] Yang Yiliu;Lu Fang(Department of Ophthalmology,West China Hospital,Sichuan University,Chengdu 610041,China)

机构地区：[1]四川大学华西医院眼科,成都610041

出　　处：《中华眼底病杂志》2023年第7期594-599,共6页Chinese Journal of Ocular Fundus Diseases

摘　　要：家族性渗出性玻璃体视网膜病变(FEVR)是一种严重的遗传性视网膜血管疾病。其临床表现多样,患者病情轻重不一,严重者可能双眼致盲。FEVR的致病基因也十分复杂,目前已发现的经典和候选致病基因有十余种,包括NDP、FZD4、LRP5、TSPAN12、CTNNB1、KIF11、ZNF408、RCBTB1、LRP6、CTNNA1、CTNND1、JAG1、ILK、ATOH7、DLG1、DOCK6、ARHGP31和EVR3区域。这些致病基因涉及Wnt/β-连环蛋白路径、Norrin/β-连环蛋白路径、Notch通路等多个信号通路,通过调控和影响视网膜浅层、深层血管发育以及玻璃体血管退化、血管内皮细胞间连接和血视网膜屏障稳态等结构和生理病理过程来最终导致疾病发生发展。Familial exudative vitreoretinopathy(FEVR)is a serious hereditary retinal vascular disease.The clinical manifestations vary,and the severity of the patients'condition is different.In severe cases,it may lead to bilateral blindness.The pathogenic mechanism of FEVR is also complex.At present,more than ten classical and candidate pathogenic genes have been found:NDP,FZD4,LRP5,TSPAN12,CTNNB1,KIF11,ZNF408,RCBTB1,LRP6,CTNNA1,CTNND1,JAG1,ATOH7,DLG1,DOCK6,ARHGP31 and EVR3 region.These pathogenic genes are involved in Wnt/β-catenin signaling pathway,norrin/β-catenin pathway and Notch pathway.They regulate and affect the development of retinal blood vessels,hyaloid vascular system regression,endothelial cell connections,and blood retinal barrier homeostasis,ultimately leading to the occurrence and development of FEVR disease.

关 键 词：家族性渗出性玻璃体视网膜病变 WNT信号通路 视网膜血管病变 综述 

分 类 号：R774.1[医药卫生—眼科]