Von Hippel-Lindau (VHL) disease is a genetic disease predisposing to the development of various tumours (haemangioblastomas of the neuraxis and retina, tumours of the membranous labyrinth, renal clear cell carcinomas or cysts, phaeochromocytomas, pancreatic cysts or tumours, epididymal cystadenomas), affecting one in 36,000 people. Renal cancer constitutes one of the main causes of death. The VHL gene, situated at 3p25-26, is a tumour suppressor gene which plays a major role in regulation of VEGF transcription and expression. The germ cell mutation can be identified in 70% of patients. Somatic mutations of the VHL gene are also responsible for sporadic clear cell carcinomas. In the urological setting, any patient presenting with "sporadic" bilateral clear cell renal cancer or detected at an early age, or bilateral epididymal cystadenomas, should be investigated for the presence of VHL disease.