Autosomal dominant exudative vitreoretinopathy.
Twelve affected members from 3 families with autosomal dominant exudative vitreouretinopathy were examined, and the following conclusions were drawn: (1) There is great variability in the phenotypic expression of the abnormal gene, such that many patients have very mild disease which can be detected with certainty only by fluorescein angiography. (2) Gene penetrance is close to 100%. (3) Progress of fundus changes and visual threat is rare after 20 years of age.
D000293:Adolescent; D000328:Adult; D002648:Child; D005128:Eye Diseases / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005451:Fluorescein Angiography; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012164:Retinal Diseases / Q000175:diagnosis / Q000235:genetics*; D012171:Retinal Vessels; D014822:Vitreous Body