Retinal hemangioblastoma: prevalence, incidence and frequency of underlying von Hippel-Lindau disease

Abstract

In the first national study in which almost all participants were genetically tested, vHL was the underlying cause of retinal hemangioblastoma in 84% of cases; more often than previously reported. We recommend that genetic and clinical vHL screening should be performed in all patients with retinal hemangioblastoma.