Screening and diagnosis of familial exudative vitreoretinopathy

Abstract

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.

Keywords

• familial exudative vitreoretinopathy
• vitreoretinopathy
• ultra-wide-field imaging