von Hippel-Lindau disease

In recent years advances have been made in the clinical and genetic aspects of Von Hippel-Lindau disease (VHL). Retinal capillary hemangioma is the mo st common manifestation of VHL disease and, therefore, ophthalmologists are frequently involved in the care of patients with this disease. The inciden ce of VHL disease is approximately 1 in 40,000 live births. It is estimated that there are approximately 7000 patients with VHL disease in the USA. Th e inheritance of VHL disease is autosomal dominant with high penetrance. De pending on the clinical circumstances, retinal capillary hemangioma may be managed by observation, laser photocoagulation, cryotherapy, and plaque rad iotherapy. Typical extraocular lesions associated with VHL disease are cent ral nervous system hemangioma, renal cyst, renal carcinoma, pancreatic cyst s and adenoma, pancreatic islet cell tumors, pheochromocytoma, endolymphati c sac tumor of the inner ear, and cystadenoma of the epididymis and the bro ad ligament. The life expectancy of affected individuals may be improved by early detection and treatment of varied manifestations with the use of sur veillance protocols. Identification of the VHL gene on chromosome 3p25-26 h as now made it possible for suspected individuals to undergo genetic testin g with a high degree of accuracy. We review herein the ophthalmic manifesta tions and treatment of retinal capillary hemangioma and systemic findings o f the VHL disease. (C) 2001 by Elsevier Science Inc. All rights reserved.