Hemangioblastomas of the retina: impact of von Hippel-Lindau disease.
OBJECTIVE
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.
Niemelä
M
M
Department of Neurosurgery, Helsinki University Hospital, Finland. mika.niemela@hus.fi
Lemeta
S
S
Sainio
M
M
Rauma
S
S
Pukkala
E
E
Kere
J
J
Böhling
T
T
Laatikainen
L
L
Jääskeläinen
J
J
Summanen
P
P
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D005387:Finland / Q000453:epidemiology; D005451:Fluorescein Angiography; D005500:Follow-Up Studies; D018325:Hemangioblastoma / Q000150:complications* / Q000473:pathology; D006801:Humans; D008025:Ligases; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D015995:Prevalence; D011379:Prognosis; D011506:Proteins / Q000235:genetics; D019572:Retinal Neoplasms / Q000150:complications* / Q000473:pathology; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D014792:Visual Acuity; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D006623:von Hippel-Lindau Disease / Q000150:complications* / Q000453:epidemiology / Q000473:pathology
D011506:Proteins; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D008025:Ligases; C497446:VHL protein, human