Ocular von Hippel-Lindau disease: clinical update and emerging treatments.

Abstract

PURPOSE OF REVIEW:

von Hippel-Lindau disease is an inherited, multisystemic cancer syndrome often involving the retina. This review will provide an update for the clinical characterization and treatment of ocular von Hippel-Lindau disease.

RECENT FINDINGS:

A comprehensive and quantitative clinical characterization of ocular von Hippel-Lindau disease has been limited by small patient numbers and nonrepresentative sampling. Recently, a large population of patients with clinically and genetically defined von Hippel-Lindau disease was systemically characterized in a single center, enabling a quantitative evaluation of the ocular involvement of this syndrome. Correlations between the nature of von Hippel-Lindau gene mutations and the ocular phenotype were also examined, providing clues as to how disruptions in von Hippel-Lindau protein function may result in eye disease. This understanding may be relevant to the development of new therapies targeting the molecular biology of von Hippel-Lindau disease, some of which are presently being investigated.

SUMMARY:

Quantitative studies enable a full characterization of the impact of von Hippel-Lindau disease on eye health and visual function. Establishing correlations between the genotype of the von Hippel-Lindau mutation and the phenotype of eye disease may inform us as to how ocular von Hippel-Lindau disease arises, and help guide molecular interventions in ocular von Hippel-Lindau disease.

• Authors: Wai T Wong, Emily Y Chew
• Journal: Current opinion in ophthalmology (Curr Opin Ophthalmol) Vol. 19 Issue 3 Pg. 213-7 (May 2008) ISSN: 1531-7021 [Electronic] United States
• PMID: 18408496 (Publication Type: Journal Article, Review)

Chemical References

• Angiogenesis Inhibitors
• Von Hippel-Lindau Tumor Suppressor Protein
• VHL protein, human

Topics

• Angiogenesis Inhibitors (therapeutic use)
• Genotype
• Hemangioma, Capillary (diagnosis, drug therapy, genetics)
• Humans
• Mutation
• Photochemotherapy (methods)
• Prognosis
• Retinal Neoplasms (diagnosis, drug therapy, genetics)
• Von Hippel-Lindau Tumor Suppressor Protein (genetics)
• von Hippel-Lindau Disease (diagnosis, drug therapy, genetics)