【摘要】 家族性渗出性玻璃体视网膜病变(FEVR)是一种罕见的遗传性玻璃体视网膜疾病。FEVR具有遗传异质性,遗传方式包括常染色体显性、常染色体隐性、X连锁隐性遗传。目前在FEVR患者中已发现11个致病基因,其中NDP、FZD4、LRP5、TSPAN12编码的蛋白质参与Wnt/Norrin信号通路。FEVR还具有临床异质性,轻者可无任何症状,重者发生视网膜脱离甚至失明。眼底荧光素血管造影(FFA)检查能明确诊断;早期激光治疗和抗血管内皮生长因子(VEGF)治疗取得了良好效果;病变严重时,需手术治疗。当下FEVR的研究聚焦在基因和分子层面,针对致病基因选择性靶向治疗,是当今治疗的新方向。该文就FEVR的最新研究进展进行综述。更多还原

【Abstract】 Familial exudative vitreoretinopathy( FEVR) is a rare inherited vitreoretinal disorder. FEVR has genetic heterogeneity,and the hereditary methods include autosomal dominant,autosomal recessive,and X-linked recessive inheritance. At present,11 pathogenic genes have been found in FEVR patients,among which proteins encoded by the NDP,FZD4,LRP5 and TSPAN12 genes are involved in the Wnt/Norrin signaling pathway. Patients with FEVR also has clinical heterogeneity,mild cases may experience no symptoms while severe cases may develop retinal detachment or even blindness. Fundus fluorescein angiography( FFA) examination can establish the diagnosis. Early laser treatment and anti-vascular endothelial growth factor treatment have been proved with good results. When the lesion is severe,surgical treatment is required. Currently,researches regarding FEVR focus on the gene and molecular level,selective targeted therapy of FEVRrelated genes is a new treatment direction. This paper reviews the latest research progress of FEVR.更多还原