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.