What are the clinical features of von hippel-lindau (VHL) disease?
VHL disease is a rare autosomal dominant syndrome that affects 1:30,000 to 1:50,000 live births and is associated with germline mutations in the VHL tumor suppressor gene, located on the short arm of chromosome 3 (3p25-26). Clinical features include hemangioblastomas in the retina, brain, and spine, tumors of the endolymphatic sac, pheochromocytomas, and pancreatic cysts. In the kidney, VHL presents with multiple, bilateral, clear cell–lined cysts in 70% to 80% and multifocal and bilateral renal clear cell carcinoma in 40% to 60% of patients. Genetic testing for VHL is available as a clinical test.
