OBJECTIVES To describe the features, natural history, and management of an unusual manifestation of ocular von Hippel-Lindau disease in the form of fine vascular proliferation. METHODS Case series of 14 patients with definite or presumed von Hippel-Lindau disease. RESULTS Retinal vascular proliferation consisting of fine superficial vessels was found in 16 eyes of 14 patients with von Hippe...

CONTEXT Von Hippel-Lindau disease is an inherited syndrome of multiorgan neoplasia caused by a germline mutation in the von Hippel-Lindau gene and can include central nervous system tumors, renal cell carcinomas and benign pancreatic cystic tumors. CASE REPORT We report the case of a 56-year-old patient who had a past history of cerebellar hemangioblastoma and presented with abdominal pain. I...

Recent studies of a relatively rare hereditary cancer syndrome, von Hippel-Lindau (VHL) disease, have shed new light on the molecular pathogenesis of kidney cancer and, perhaps more important, on how mammalian cells sense and respond to changes in oxygen availability. This knowledge is already translating into new therapeutic targets for kidney cancer as well as for multiple conditions, such as...