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 referred to 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 decreased visual acuity after a traffic accident during childhood. He had laser treatment when he was 12 years old and again 1 month before our examination. He also had laser-assisted in situ keratomileusis surgery for both eyes in 2002. On examination, his visual acuity was 0.4 in the right eye and 0.3 in the left eye. He had cortical cataract in both eyes. Macula OCT revealed macular contour irregularity due to epiretinal membrane in his right eye and minimal perifoveal thinning in his left eye. On fundus photography, straightening of the retinal vessels, macular dragging, retinal folds on temporal retina, preretinal fibrosis, and laser spots were seen. FFA revealed avascular retinal areas with incomplete laser spots in the temporal, inferior, and superior parts of retina. He also had neovascularization with leakage in the temporal retina of his right eye. The patient’s brother, who was also born at full term, also had excessive branching of the vascular structures in the temporal peripheral retina, non-perfused cord vessels and avascular areas. In light of all these findings, we diagnosed our patient with Stage 2A FEVR and his brother with Stage 1 FEVR. In summary, FEVR is a clinically diagnosed disease. Because FEVR is inherited and potentially sight-threatening, family examination is helpful and important so that affected family members can be diagnosed and followed up.

Keywords

• Retina
• familial exudative vitreoretinopathy
• genetics