Clinical features and molecular genetics of Von Hippel-Lindau disease

Abstract excerpt

Although familial cancer syndromes are rare, a knowledge of these disorders is relevant to both clinicians and basic scientists. This is exemplified by Von Hippel-Lindau (VHL) disease which is caused by germline mutations in the VHL tumour suppressor gene. This multisystem disorder provides a complex clinical problem for ophthalmologists and other specialists. In addition, recent advances in the molecular...