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Hemangioblastomas of the Retina: Impact of von Hippel–Lindau Disease

From the Departments of ¹ Neurosurgery, ² Neurology, ³ Radiology, ⁵ Medical Genetics, ⁶ Pathology, and ⁷ Ophthalmology, Helsinki University Hospital, and the ⁴ Finnish Cancer Registry, Helsinki, Finland.

PURPOSE. To assess the prevalence of von Hippel–Lindau (VHL) disease and prognosis of vision in patients with retinal hemangioblastomas (HBs).

METHODS. Thirty-six consecutive patients with retinal HBs were treated at Helsinki University Hospital between 1974 and 1998. Detailed neurologic, ophthalmologic, and radiologic examinations; pedigree; mutation analyses; and collection of all relevant clinical, imaging, operative, and autopsy data were performed to identify VHL.

RESULTS. The median follow-up time was 10 years. No patient was lost to follow-up. There were three patient groups: 1) 11 patients with clinically definite VHL; 2) 10 patients with clinically suspected VHL with more than one retinal HB (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 patients without VHL with a single retinal HB but no other data suggestive of VHL. In the 11 patients with definite VHL, retinal HBs were detected at a median age of 27 years versus 40 years in the 15 non-VHL patients, and 21 of the 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 VHL patients. All patients with retinal HB should undergo thorough VHL exclusion.

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