Inherited retinal venous beading.
Four generations of a family with an unusual pattern of ocular vascular abnormalities were studied. Two male and three female members in two affected generations demonstrated prominent retinal venous segmental beading. Various individuals demonstrated areas of focal retinal infarction, surface retinal neovascularization, vitreous hemorrhage, microaneurysm formation, altered vascular permeability with lipid exudation, and focal edema. Several members demonstrated abnormalities of distribution of arterioles and venules. Saccular aneurysmal changes were present in conjunctival vessels. Renal disease was present in two affected individuals in the fourth and fifth decades, respectively.
D000293:Adolescent; D000328:Adult; D000013:Congenital Abnormalities / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012169:Retinal Vein / Q000002:abnormalities*