Von Hippel-Lindau Disease: A New Approach to an Old Problem

von hippel-lindau disease: a new approach to an old problem

background von hippel-lindau (vhl) disease is a hereditary, autosomal dominant syndrome which is manifested by a range of different benign and malignant tumors. this disease can present with different clinical presentations such as; retinal angioma (ra), hemangioblastoma (hb) of the central nervous system (cns), pheochromocytoma (pheo), and epididymal cystadenoma. tumors are usually accompanied...

Von Hippel-Lindau Disease: A New Approach to an Old Problem

BACKGROUND Von Hippel-Lindau (VHL) disease is a hereditary, autosomal dominant syndrome which is manifested by a range of different benign and malignant tumors. This disease can present with different clinical presentations such as; retinal angioma (RA), hemangioblastoma (HB) of the central nervous system (CNS), pheochromocytoma (Pheo), and epididymal cystadenoma. Tumors are usually accompanied...

Von Hippel-Lindau disease.

Von Hippel-Lindau Disease

A germline mutation in the Von-Hippel Lindau (VHL) gene predisposes carriers to development of abundantly vascularised tumours in the retina, cerebellum, spine, kidney, adrenal gland and pancreas. Most VHL patients die from the consequences of cerebellar haemangioblastoma or renal cell carcinoma. The VHL gene is a tumour suppressor gene and is involved in angiogenesis by regulation of the activ...

[Von Hippel-Lindau disease].

In recent years advances have been made in the clinical and genetic aspects of von Hippel-Lindau disease (VHL). Retinal capillary hemangioma is the most common manifestation of VHL disease and, therefore, ophthalmologists are frequently involved in the care of patients with this disease. The incidence of VHL disease is approximately 1 in 40,000 live births. It is estimated that there are approx...