家族性渗出性玻璃体视网膜病变的诊断与治疗

Diagnosis and management of familial exudative vitreoretinopathy

摘要:

家族性渗出性玻璃体视网膜病变(familial exudative vitreoretinopathy， FEVR)是一种罕见的遗传性视网膜血管发育异常性疾病，目前已发现的致病基因有FZD4、NDP、LRP5、TSPAN12、ZNF408、KIF11。其临床表现多样，轻者无临床症状，重者可出现视网膜周边无灌注区、新生血管形成、视网膜渗出、玻璃体积血、视网膜褶皱、视网膜脱离等。荧光素眼底血管造影(FFA)检查能发现早期无症状者，可明确病变范围和预示病情发展，指导治疗。患者病变程度不同，治疗方法各异，主要包括：视网膜激光光凝术、巩膜外垫压术、玻璃体切割术及抗-VEGF药物的辅助治疗。随着本病基因研究的进展，有望在分子水平对本病进行诊断，获得更有效的治疗方法。

Abstract:

Familial exudative vitreoretinopathy(FEVR)is a rare inherited disorder of retinal angiogenesis. It is characterized by avascular peripheral retina. Mutations in FZD4, NDP, LRP5, TSPAN12, ZNF408, KIF11 have been found the causation genes of FEVR. The phenotypic features are variable, when some patients are asymptomatic while some may suffer from neovascularization, exudation, hemorrhage, retinal folds and retinal detachment. The use of FFA can help to identify the disease in the earlier stage, enabling timely treatment. The current treatments include laser photocoagulation, scleral buckling, vitrectomy and intravitreal anti-VEGF injections as an adjunctive therapy before surgery. With the development of genome research on this disease, the more effective diagnosis and treatments would be available.