华西医学

华西医学

家族性渗出性玻璃体视网膜病变

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家族性渗出性玻璃体视网膜病变(familial exudative vitreoretinopathy,FEVR)是一种严重的遗传性玻璃体视网膜疾病。目前已发现的致病基因有 FZD4LRP5NDPTSPAN12ZNF408KIF11,其中前 4 个基因参与 Wnt 和 Norrin-β-catenin 信号通路,该通路在眼部结构的发育和新生血管形成中发挥重要作用。周边视网膜血管化不完全及异常,和(或)视网膜血管分化异常为其显著临床特征,但 FEVR 患者临床表现多样,轻者可无任何症状,重者发生视网膜脱离甚至失明。眼底血管造影及遗传学筛查是主要的诊断方式,早期筛查对此病的治疗及预后有重要意义。疾病初期激光治疗可控制其进展;晚期视网膜脱离可进行巩膜扣带术及玻璃体切割术,但预后差;抗血管内皮生长因子药物对新生血管的抑制作用在其治疗中可发挥一定作用。随着对致病机制的深入研究,针对 FEVR 致病基因的选择性靶向治疗会成为某些临床表型 FEVR 患者的治疗新方向。该文主要就 FEVR 的最新研究进展进行综述。

Familial exudative vitreoretinopathy (FEVR) is a severe inherited vitreoretinal disorder. Recently, mutations in genes encoding frizzled 4 (FZD4), low density lipoprotein receptor-related protein 5 (LRP5), norrie disease protein (NDP), tetraspanin 12 (TSPAN12), zinc fmger protein 408 (ZNF408), kinesin family member 11 (KIF11) have so far been identified to cause FEVR. The former four genes have been shown to participate in the Wnt and Norrin-β-catenin signal pathway, which perform a crucial role for this pathway in ocular and vascular development. The primary clinical feature of FEVR is incomplete retinal vascular development on the temporal side of the peripheral retina, with or without abnormal retinal vascular differentiation. The clinical manifestations of this disease differ greatly among patients, from asymptomatic to complete retinal detachments with blindness. Fundus angiography and genetic screening are the main diagnostic methods for this disease and the early screening is extremely important in the treatment and prognosis. The progress can be controlled by laser treatment at the initial stage. Scleral buckling surgery and vitrectomy can be performed with advanced retinal detachment, but the prognosis is poor. The effect of anti-vascular endothelial growth factor drugs on new blood vessels may play a certain role in its treatment. With the in-depth study of pathogenesis, selective targeted treatment of FEVR pathogenic genes will become a new direction of treatment for some kinds of phenotype. This article reviews the recent advances of FEVR.

关键词: 家族性渗出性玻璃体视网膜病变; 玻璃体视网膜疾病; 致病基因; 突变

Key words: Familial exudative vitreoretinopathy; Vitreoretinal disorder; Pathogenic gene; Mutation

引用本文: 谢雪璐, 陆方. 家族性渗出性玻璃体视网膜病变. 华西医学, 2018, 33(11): 1420-1427. doi: 10.7507/1002-0179.201810052 复制

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