Familial Exudative Vitreoretinopathy in 5 members of 3 generations.

Yoo, Chang Yuel; Huh, Kuhl

Case Report

Journal of the Korean Ophthalmological Society 1995;36(3):547-552.
Published online March 1, 1995.

Familial Exudative Vitreoretinopathy in 5 members of 3 generations.

Chang Yuel Yoo, Kuhl Huh

Department of Ophthalmology, College of Medicine, Korea University, Seoul, Korea.

3 대 5 명에서 나타난 가족성 삼출 유리체 망막증

류창열(Chang Yuel Yoo),허걸(Kuhl Huh)

Abstract

Familial Exudative Vitreoretinopathy is an autosomal dominant inherited congenital retinal disorder which is thought to be caused by abnormal development of retinal vascular system and characterized by avascularity of peripheral retina, temporally dragged retina and ectopia of macula. Fundus findings of this disorder are very similar to those of retinopathy of prematurity except for no history of prematurity and oxygen administration in perinatal period. So the perinatal history and careful examination of family members in suspicious patients are important in diagnosis. The authors examined a six year old girl with poor vision compatible to a familial exudative vitreoretinopathy and all of her family members. The examination revealed that five members of three generations in this family had familial exudative vitreoretinopathy. The inheritance pattern was an autosomal dominant based upon the pedigree.

Key Words: Autosomal dominant;Familial exudative vitreoretinopathy