家族性渗出性玻璃体视网膜病变的筛查与诊断

家族性渗出性玻璃体视网膜病变(FEVR)是一种遗传性玻璃体视网膜疾病,主要临床特点为周边视网膜血管发育异常,眼底检查的特征性改变包括周边视网膜无血管区、血管分支增多以及异常吻合等。其临床表型多样,可无明显症状,易被漏诊,也可表现为视网膜脱离、视网膜皱褶、玻璃体积血等,给患者的视力造成严重影响。以往多认为FEVR是一种罕见病,但近来在新生儿眼底筛查中发现FEVR的发病率可达1%。目前FEVR的诊断主要通过其临床特点、眼底荧光素造影、致病基因检测等途径。广角眼底照相技术具有无创、快速便捷等特点,可应用于FEVR患者的快速筛检和诊断。本文总结了FEVR的临床特点和诊断方法及广角眼底照相在FEVR筛查中的应用价值。

Screening and diagnosis of familial exudative vitreoretinopathy

Familial exudative vitreoretinopathy(FEVR)is an inherited vitreoretinopathy characterized by vascular dysplasia of periphery retina. Typical fundus findings consist of avascular periphery retina, increasing branching and abnormal anastomosis of retinal vessels. Having diversified clinical phenotypes, FEVR patients can be asymptomatic, which can often be missed, or with severe complications including retinal detachment, retinal folds, vitreous hemorrhage, causing vision loss. While FEVR had been thought to be rare in previous studies, the incidence was found to reach up to 1% in recent studies of fundus screening in the newborn. Diagnosis is usually based on clinical features, fundus fluorescein angiography, and detection of pathogenic genes. Ultra-wide-field imaging is a noninvasive and convenient way for the screening and diagnosis of FEVR. In this review,clinical features and diagnostic approaches of FEVR are concluded, and application value of ultra-wide-field imaging in its screening is discussed.