한가족에 발생한 가족성 삼출성 초자체망막증

Abstract

The familial exudative vitreoretinopathy is an autosomal dominantly inherited disease and shows abnormalities of the retina and vitreous. It affects both eyes in most cases, but the involvement is often asymmetric. Thus it is important to screen familial members carefully, since they may have only mild, nonprogressive changes in the retinal periphery. It is important to know family history of the disorder and history of prematurity or oxygen supplementation, since the clinical features are most similar to retinopathy of prematurity. The authors experienced three cases of familial exudative vitreoretinopathy in a 2-year-old girl with cryotherapy and her father and her brother with asymptomatic familial exudative vitreoretinopathy that has retinal vascular avascular zone of peripheral retina.