Familial Exudative Retinopathy: A Case and Family Analysis

Abstract

Familial exudative vitreoretinopathy (FEVR) is a rare inherited disorder of retinal angiogenesis. A 49-year-old male patient was referredto our clinic for retinal vascular occlusion. His history, clinical findings, and fundus fluorescein angiography findings were evaluated.Family members were called and eye examinations were performed. Our patient was not born preterm and he reported decreasedvisual acuity after a traffic accident during childhood. He had laser treatment when he was 12 years old and again 1 month before ourexamination. He also had laser-assisted in situ keratomileusis surgery for both eyes in 2002. On examination, his visual acuity was 0.4in the right eye and 0.3 in the left eye. He had cortical cataract in both eyes. Macula OCT revealed macular contour irregularity due toepiretinal membrane in his right eye and minimal perifoveal thinning in his left eye. On fundus photography, straightening of the retinalvessels, macular dragging, retinal folds on temporal retina, preretinal fibrosis, and laser spots were seen. FFA revealed avascular retinalareas with incomplete laser spots in the temporal, inferior, and superior parts of retina. He also had neovascularization with leakage inthe temporal retina of his right eye. The patient’s brother, who was also born at full term, also had excessive branching of the vascularstructures in the temporal peripheral retina, non-perfused cord vessels and avascular areas. In light of all these findings, we diagnosedour patient with Stage 2A FEVR and his brother with Stage 1 FEVR. In summary, FEVR is a clinically diagnosed disease. BecauseFEVR is inherited and potentially sight-threatening, family examination is helpful and important so that affected family members canbe diagnosed and followed up.