Von Hippel-Lindau disease. Histopathologic findings in a treated and an untreated eye

Both eyes from a patient with the von Hippel-Lindau syndrome were obtained for histologic examination. Angiomatosis retinae and retinal detachments were found bilaterally. The right eye, in which the lesion had been photocoagulated on two occasions, was studied by the conventional serial section technique. The effects of the light coagulation and the degree of preservation of the retinal angioma are described. The angioma consisted of proliferating endothelial cells and new-formed capillaries. Reactive gliosis was confined to the periphery of the lesion. The retinal vasculature of the untreated left eye was studied by the trypsin digestionflat mount technique. This demonstrated a large dilated arteriole extending to the far periphery, where it entered a contorted angioma composed of endothelial cells. From this, a dilated tortuous venule extended back to the posterior pole. Unusual proliferative endothelial changes in the "feeding" arteriole are described. The possibility that the von Hippel lesion (angiomatosis retinae) is a hamartomatous malformation of an entire vascular unit-arteriole, capillary bed, and venule -is discussed.