[关键词]
[摘要]
家族性渗出性玻璃体视网膜病变(FEVR)是一种严重的临床和遗传异质性视网膜疾病，以周边视网膜血管发育异常为特征。FEVR的临床表型较多，典型的特征是视网膜皱褶； FEVR的遗传方式也较多，具有很高的遗传异质性，包含常染色体隐性遗传，X染色体隐性遗传，常染色体显性遗传以及其他的散在遗传方式。迄今为止已经证实9个FEVR致病基因：NDP、FZD4、LRP5、CTNNA1、TSPAN12、ZNF408、KIF11、CTNNB1、JAG1基因。这些基因主要参与Wnt、Notch和Norrin-β-catenin等信号通路。本文从上述9个FEVR致病基因及其信号通路等方面进行综述。
[Key word]
[Abstract]
Familial exudative vitreoretinopathy(FEVR)is a severe clinically and genetically heterogeneous retinal disease which characterized by abnormal development of the peripheral retinal vessels. FEVR presents many clinical phenotypes, the main and typical feature is retinal folds. There are various inheritance modes with high genetic heterogeneity of FEVR including autosomal recessive, X-recessive, autosomal dominant recessive, and other scattered inheritance modes. So far, nine FEVR pathogenic genes have been reported: NDP, FZD4, LRP5, CTNNA1, TSPAN12, ZNF408, KIF11, CTNNB1, and JAG1 genes. These genes are mainly involved in signaling pathways such as Wnt, Notch, and Norrin-β-catenin. This article reviews the above nine FEVR pathogenic genes and their signaling pathways.
[中图分类号]
[基金项目]
国家自然科学基金资助项目(No.81860171); 云南省卫生健康委员会医学后备人才培养计划项目(No.H-2018020)
