Ocular manifestations of Alport's syndrome: a hereditary disorder of basement membranes?

Abstract

The ocular manifestations in 16 patients with Alport's syndrome were lenticonus and retinal flecks in the macula and mid periphery. These 3 features appear to be specific for this syndrome and are a considerable aid to diagnosis. Lens opacities are common, and other ocular abnormalities occur sporadically. The present evidence indicates that this is a hereditary, widespread disorder of basement membrane, and it is suggested that ophthalmologists may contribute to the further understanding of it by directing attention towards analysis of the lens capsule after cataract extraction. The similarity of the retinopathy to that of fundus albipunctatus is noted, and it is suggested that the latter condition should not be diagnosed in the absence of renal investigation and audiometry.