- mutation in VHL gene (chromosome 3)
- features
- cerebellar, brainstem and spinal hemangioblastoma
- retinal angioma
- phaeochromocytoma / paraganglioma
- clear cell renal cell carcinoma (most common cause of death)
- genetic testing (VHL gene analysis) in affected families should take place around 5 years of age
- affected individual requires yearly urinalysis, catecholamine screening, fluorescein angiography and 3 yearly brain MRI screening
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