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


RESULTS
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.


CONCLUSIONS
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.
Wong
Wai T
WT
Office of Scientific Director, USA. wongw@alum.mit.edu
Chew
Emily Y
EY
D020533:Angiogenesis Inhibitors / Q000627:therapeutic use*; D005838:Genotype; D018324:Hemangioma, Capillary / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D006801:Humans; D009154:Mutation; D010778:Photochemotherapy / Q000379:methods*; D011379:Prognosis; D019572:Retinal Neoplasms / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics; D006623:von Hippel-Lindau Disease / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics
D020533:Angiogenesis Inhibitors; D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human