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

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.

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.

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.