You are treating a 26-year-old man who presented with exudative macular edema. Ocular and systemic studies revealed the presence of retinal and central nervous system hemangioblastomas, adrenal pheochromocytoma, as well as multiple pancreatic and renal cysts. Detailed family history revealed that his father had died from cerebral vascular accident at the age of 54 and had been treated for uncontrolled blood pressure, but was not investigated for possible presence of adrenal gland tumor. This patient is most likely suffering from defective function of which of the following genes?

Question

Quizplus · Accepted Answer

The clinical presentation is consistent with Von Hippel-Lindau (VHL) disease, which is caused by mutations in the VHL gene. This condition is characterized by hemangioblastomas, pheochromocytomas, and cysts in various organs. von Hippel-Lindau syndrome (VHL) results from inheritance of a mutated copy of the VHL gene. As a consequence of somatic mutation or loss of the normal VHL gene, individuals are predisposed to a wide array of tumors that include renal cell carcinomas, retinal angiomas, cerebellar hemangioblastomas, and pheochromocytomas. One characteristic feature of tumors from VHL patients is the high degree of vascularization, primarily as a result of the constitutive expression of the vascular endothelial growth factor (VEGF) gene.

You Are Treating a 26-Year-Old Man Who Presented with Exudative