The clinical presentation depends on the underlying VHL mutation (see the genotype-phenotype correlation) and varies greatly both within a family and between families, even when the same mutation is involved.
Hemangioblastomas occur in the CNS and the retina and usually grow in spurts. Depending on where they are located, they can cause different neurological symptoms, such as headaches, vomiting, ataxia, gait impairment, sensory or motor failure symptoms, and pain, if they occur in the retina, they may lead to loss of visual field and impaired vision. However, they may also progress without symptoms, in which case they are commonly identified during the course of early-detection examinations. In the CNS, 20% of hemangioblastomas occur in the spinal cord and 80% in the brain, most of which are infratentorial.