Clinical features and molecular genetics of Von Hippel-Lindau disease

Ophthalmic Genet. 1995 Sep;16(3):79-84. doi: 10.3109/13816819509059966.


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 genetics of this disorder are providing novel insights into the molecular mechanisms of tumourigenesis in VHL disease and in more common nonfamilial neoplasms such as clear cell renal carcinoma and central nervous system haemangioblastoma. In this review, we describe the clinical manifestations (with particular reference to the ocular complications) and the molecular genetics of VHL disease.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Angiomatosis / genetics
  • Angiomatosis / pathology
  • Cerebellar Neoplasms / genetics
  • Cerebellar Neoplasms / pathology
  • Hemangioblastoma / genetics
  • Hemangioblastoma / pathology
  • Humans
  • Molecular Biology
  • Retinal Diseases / genetics
  • Retinal Diseases / pathology
  • Risk Factors
  • von Hippel-Lindau Disease / diagnosis*
  • von Hippel-Lindau Disease / genetics*
  • von Hippel-Lindau Disease / therapy