Hemangioblastomas of the retina: impact of von Hippel-Lindau disease

PURPOSE. TO assess the prevalence of von Hippel-Lindau (VHL) disease and pr ognosis of vision in. patients with retinal hemangioblastomas (HBs). METHODS. Thirty-six consecutive patients with retinal HBs were treated at H elsinki University Hospital between 1974 and 1998. Detailed neurologic, oph thalmologic, and radiologic examinations; pedigree; mutation analyses; and collection of all relevant clinical, imaging, operative, and autopsy data w ere performed to identify VHL. RESULTS. The median follow-up time was 10 years. No patient was lost to fol low-up. There were three patient groups: 1) 11 patients with clinically def inite VHL; 2) 10 patients with clinically suspected VHL with more than one retinal HE (5/10) or visceral cysts (5/10), but with no family history, no detected germ-line mutations, and no VHL-related neoplasms; and 3) 15 patie nts without VHL with a single retinal HB but no other data suggestive of VH L. In the II patients with definite VHL, retinal HBs were detected at a med ian age of 27 years versus 40 years in the 15 non-VHL patients, and 21 of t he 22 eyes were affected. Two VHL patients were totally blind at the end of follow-up compared with one legally blind patient with suspected VHL, but none of the non-VHL patients was blind. The clinical appearance of HBs did not differ among the patient groups. CONCLUSIONS. The prevalence of VHL among patients with retinal HBs was 30% to 58% (11-21 of 36). Visual prognosis was more favorable in non-VHL than V HL patients, All patients with retinal HE should undergo thorough VHL exclu sion.