j.cnki.rao.2015.0243]
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家族性渗出性玻璃体视网膜病变致病基因研究进展

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《眼科新进展》[ISSN:1003-5141/CN:41-1105/R]

Title:: Recent advances in pathogenic genes of familial exudative vitreoretinopathy

Author(s):: DU Yang ; SU Guan-Fang; Department of Ophthalmology , the Second HospitaL of Jilin University , Changchun 130022 . Jilin Province , China

Keywords:: ; familial exudative vitreoretinopathy ; pathogenic gene ; mutation

摘要:: 家族性渗出性玻璃体视网膜病变（ｆａｍｉｌｉａｌｅｘｕｄａｔｉｖｅｖｉｔｒｅｏｒｅｔｉｎｏｐａｔｈｙ，ＦＥＶＲ）是一种罕见的遗传性视网膜血管发育异常的疾病，具有遗传异质性，遗传模式、表型和病程多样性的特点。ＦＥＶＲ遗传方式包括常染色体显性遗传、常染色体隐性遗传和Ｘ染色体隐性遗传。近年来，对ＦＥＶＲ致病基因的研究有了新的进展，目前已经发现的基因有ＦＺＤ４、ＬＲＰ５、ＮＤＰ、ＴＳＰＡＮ１２、ＺＮＦ４０８和ＫＩＦ１１，其中前４种基因被证实参与Ｎｏｒｒｉｎ／Ｆｒｉｚｚｌｅｄ-４信号通路，在视网膜血管生成过程中起重要作用。本文主要就ＦＥＶＲ致病基因的最新研究进展做一综述。

Abstract:: Familial exudative vitreoretinopathy ( FEVR) is a rare inherited disorder of retinal angiogenesis , with genetic heterogeneity and variable patterns of inheritance . expressivity , and disease course. Cases can be inherited in an autosomal dominant . autosomal recessive, or X-Iinked recessive manner. In recent years, there have been new progresses in the study on pathogenic genes of FEVR. Recently , mutations in genes encoding frizzled 4 ( FZD4 ) , low density lipoprotein receptor-related protein 5 ( LRP5 ) . norrie disease protein ( NDP) , tetraspanin 12 ( TSPAN12 ) , zinc finger protein 408 ( ZNF408) ,kinesin family member 11 ( KIFII) have so far been identified to cause FEVR. The former four genes have been shown to participate in the Wnt signalling pathway , termed as Norrin/Frizzled-4 signalling , suggesting a crucial role for this pathway in retinal vascular development. This article reviews the recent advances in pathogenic genes of FEVR.

更新日期/Last Update: 2015-08-31