Diagnosis of VHL Direct ophthalmoscopy Central nervous system imaging, typically MRI Sometimes molecular genetic testing Von Hippel-Lindau disease is diagnosed when one of the following criteria is met: Family history of VHL and presence of ≥ 1 VHL tumor (retinal, brain, or spinal hemangioblastoma; pheochromocytoma; renal cell carcinoma; or pancreatic endocrine tumor) Two or more characteristic VHL tumors in patients with no known family history of VHL If clinical features are not conclusive, the diagnosis can also be established by using molecular genetic testing to identify a VHL gene mutation.