Solitary retinal capillary hemangioma: Lack of genetic evidence for von Hippel-Lindau disease

Abstract

Purpose: To report the results of genetic testing for von Hippel-Lindau (VHL) disease in patients presenting with solitary retinal capillary hemangioma (RCH). Methods: Ten patients with solitary RCH, who were excluded clinically as having VHL disease, underwent genetic testing using a combination of Southern blot, conformation sensitive gel electrophoresis, and direct sequence analysis. The results of the genetic tests were used to refine the empiric risk for VHL disease using principles of probability. Results: Genetic testing for VHL disease was negative for mutation in all patients. The negative results of the genetic tests diminished the empiric risk for VHL disease by 100-fold. Conclusions: Solitary RCH can occur sporadically or be associated with VHL disease. In addition to clinical evaluation, genetic testing should be considered to exclude VHL disease with a high level of certainty.