Autosomal dominant vitreoretinochoroidopathy (ADVIRC).
We report the second family recognised to have autosomal dominant vitreoretinochoroidopathy. The clinical features were (1) autosomal dominant inheritance; (2) peripheral, coarse pigmentary degeneration of the fundus for 360 degrees, with a relatively discrete posterior border in the equatorial region (this finding may be pathognomonic); (3) superficial punctate yellowish-white opacities in the retina; (4) various vascular abnormalities; (5) breakdown of the blood-retinal barrier; (6) retinal neovascularisation; (7) vitreous abnormalities; and (8) choroidal atrophy. Visual reduction was mainly due to macular oedema or vitreous haemorrhage.
D000293:Adolescent; D000328:Adult; D000368:Aged; D002386:Cataract / Q000235:genetics; D002648:Child; D002829:Choroid / Q000473:pathology; D005128:Eye Diseases / Q000235:genetics / Q000473:pathology; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012164:Retinal Diseases / Q000235:genetics / Q000473:pathology; D012171:Retinal Vessels / Q000473:pathology; D013577:Syndrome; D014603:Uveal Diseases / Q000235:genetics / Q000473:pathology; D014822:Vitreous Body / Q000473:pathology