Familial Exudative Vitreoretinopathy in 5 members of 3 generations.
- Author:
Chang Yuel YOO
1
;
Kuhl HUH
Author Information
1. Department of Ophthalmology, College of Medicine, Korea University, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Autosomal dominant;
Familial exudative vitreoretinopathy
- MeSH:
Diagnosis;
Family Characteristics*;
Female;
Humans;
Inheritance Patterns;
Oxygen;
Pedigree;
Retina;
Retinaldehyde;
Retinopathy of Prematurity
- From:Journal of the Korean Ophthalmological Society
1995;36(3):547-552
- CountryRepublic of Korea
- Language:Korean
-
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.
