von Hippel-Lindau disease: angiomatosis of the retina and central nervous system

Abstract

von Hippel-Lindau disease is a phakomatosis that is characterized by multiple angiomatous hamartomas located in the retina, central nervous system (CNS),and visceral organs. Retinal angiomas causing blindness and CNS angiomas causing death are familiar consequences of this disease. In certain cases, early detection and treatment of these lesions may prevent their disastrous effects. Since this disease is considered to have an autosomal dominant inheritance pattern, the physician should initiate a systematic examination of all the patient's family members.