Von Hippel-Lindau disease belongs to phakomatosis. It is a dominantly autosomally inherited disease. The aim of the study was to present and evaluate different methods of diagnostic examinations (computer tomography, magnetic resonance imaging and ultrasonography) in 14 patients with the disease. The results of investigations showed a wide variety of visceral manifestations. All the patients are carefully followed up. Control examinations every six months allow to check for and treat any new pathological changes in the retina.