Retinal angiomatosis. Ocular manifestation of Von Hippel-Lindau disease

Von Hippel-Lindau disease (VHL disease) is a rare multisystem disorder of autosomal dominant inheritance with high penetrance. Inactivation of the VHL-protein leads to an increased expression of hypoxia induced growth factors. Predilection sites for tumor growth are the retina, the central nervous system and various visceral organs. Retinal capillary hemangioblastoma is one of the earliest manifestations of VHL disease. The lifetime risk of permanent visual loss defined as a visual acuity of 0.5 or less is about 35% in gene carriers. It increases to 60% if there is already retinal capillary hemangioblastoma. If VHL disease is suspected, a careful ophthalmological examination should be included in the clinical screening program. Having confirmed the diagnosis, regular ophthalmoscopic monitoring is essential in order to detect developing tumors at an early stage. Therapeutic options for small to medium sized peripheral tumors are laser or cryocoagulation; larger hemangioblastomas can be treated by brachytherapy using ruthenium plaques, while asymptomatic juxtapapillary tumors can be observed at regular intervals. © Springer-Verlag 2007.