Retinal Venous Beading

Meredith (1987) described a family in which 2 sisters and a brother, their mother and a maternal uncle had prominent retinal venous segmental beading. Some of them showed areas of focal retinal infarction, surface retinal neovascularization, vitreous hemorrhage, microaneurysm formation, altered vascular permeability with lipid exudation, and focal edema. There were abnormalities of distribution of arterioles and venules. Saccular aneurysmal changes were present in conjunctival vessels. The father of the mother as well as the mother's brother had chronic hereditary nephritis and hearing loss (?Alport syndrome; 104200). Neutropenia, presumably benign, was demonstrated in 2 of the affected sibs in the third generation. It is possible that Meredith (1987) was describing ocular changes of Alport syndrome.