Von Hippel-Lindau Disease

Von Hippel-Lindau disease is a genetic disorder caused by mutations in the VHL tumor suppressor gene, which normally helps regulate how cells respond to oxygen levels, and whose loss allows tumors and cysts to develop in multiple organs. The most characteristic findings are hemangioblastomas, clusters of blood vessels that form tumors in the brain, spinal cord and retina, along with kidney cysts and clear cell kidney cancer, and tumors of the adrenal gland called pheochromocytomas. The disease is named for German ophthalmologist Eugen von Hippel, who described the retinal blood vessel tumors in 1904, and Swedish pathologist Arvid Lindau, who linked them to the cerebellar tumors in 1927.