Retinal Arteriovenous Aneurysm in Hereditary Hemorrhagic Telangiectasia

The usual pattern of cutaneous, mucosal, and visceral lesions in Osler's disease, hereditary hemorrhagic telangiectasia, is known to all experienced physicians. Variations upon this common theme, rare manifestations of a rare disease, need to be recorded to make the composite picture more detailed if not complete. In addition to the widespread cutaneous and internal telangiectatic lesions in Osler's disease which are notorious as the cause of bleeding in this disorder, various other vascular anomalies may occur in larger vessels. The best known is the pulmonary arteriovenous fistula which may result in polycythemia, cyanosis, and the rare complication of brain abscess. Aneurysms of various arteries, including the hepatic artery and splenic artery, have been reported and reviewed. 1 One of us (WBB) has observed more than 40 kindreds and more than 250 patients with the disease. Only three cases of pulmonary arteriovenous fistula have been observed, a considerably lower frequency than