Ocular Von Hippel-Lindau Disease

Retinal capillary hemangiomas are benign vascular tumors of the retina. They can be unifocal, multifocal, unilateral or bilateral, sporadic or inherited. It is heritable as autosomal dominant inheritance when associated with von Hippel-Lindau (VHL) disease. Treatment of retinal capillary hemangioma can be observation, laser photocoagulation, cryotherapy and/or plaque radiotherapy. VHL disease can be associated with central nervous system hemangioma, renal cell carcinoma and visceral tumors. VHL gene is present on chromosome 3p25-26 and suspected individuals can therefore undergo genetic testing and focused systemic surveillance. This chapter describes the ophthalmic and systemic manifestations associated with retinal capillary hemangioma.