J Korean Ophthalmol Soc.  1995 Mar;36(3):547-552.

Familial Exudative Vitreoretinopathy in 5 members of 3 generations

• Yoo CY
• Huh K

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.

Keyword

Autosomal dominant; Familial exudative vitreoretinopathy

MeSH Terms

Diagnosis
Family Characteristics*
Female
Humans
Inheritance Patterns
Oxygen
Pedigree
Retina
Retinaldehyde
Retinopathy of Prematurity
Oxygen
Retinaldehyde