This peripheral retinal abnormality is found in a patient with ataxia. What is the underlying condition?
Incorrect. Tuberous sclerosis may also show white retinal plaques. However, the unique features of this retinal abnormality, together with ataxia, suggest another diagnosis. Try again!
Incorrect. Spinocerebellar degeneration can cause ataxia, but this kind of retinal manifestation does not occur. Try again!
Incorrect. The telangiectasia is of the conjunctiva in this disorder; retinal abnormalities do not occur. Try again!
Correct. Von Hippel-Lindau disorder is an autosomal dominant disease marked by proliferation of tumors, notably retinal capillary hemangiomas and tumors of the cerebellum and spinal cord. The lesion you see here consists of a round white ball—a hemangioma--flanked by a feeding arteriole and a larger draining vein. The large draining vein is the key identifying feature, as yellow mounds can be caused by many conditions.