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Mika Niemelä, Sebsebe Lemeta, Markku Sainio, Sirpa Rauma, Eero Pukkala, Juha Kere, Tom Böhling, Leila Laatikainen, Juha Jääskeläinen, Paula Summanen; Hemangioblastomas of the Retina: Impact of von Hippel–Lindau Disease. Invest. Ophthalmol. Vis. Sci. 2000;41(7):1909-1915.
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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
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