Internal en bloc resection and genetic analysis of retinal capillary hemangioblastoma.
OBJECTIVE
To report the clinical outcomes and molecular genetics of nongermline retinal hemangioblastoma managed by surgical resection.


METHODS
Retrospective case series of 3 patients aged 16 to 46 years treated at a tertiary care referral center (Casey Eye Institute, Portland, Oregon). Tumors 7 to 9 mm in diameter were removed from 3 consecutive eyes (in 3 patients) via internal en bloc surgical resection using a bimanual technique. Samples of DNA from 2 of 3 tumors were tested for von Hippel-Lindau gene (VHL) mutations as a clue to the molecular basis for spontaneously occurring hemangioblastoma. Main outcome measures were morbidity, visual acuity, resolution of macular exudates, and presence of VHL markers.


RESULTS
Visual acuity improved or remained stable in all patients. All 3 developed cataracts, extracted in 2 instances. Histopathological findings were typical of retinal hemangioblastoma in all cases. The cells from one patient's DNA sample showed loss of heterozygosity for the VHL gene, while no genetic abnormalities were detected in the other patient's DNA sample.


CONCLUSIONS
Our patients' favorable outcomes suggest that surgical resection is an option for patients with large retinal hemangioblastomas. In addition, ours may be the first report of retinal hemangioblastoma unassociated with a VHL mutation.
Schlesinger
Thomas
T
Casey Eye Institute, Oregon Health & Science University, Portland, OR 97239, USA.
Appukuttan
Binoy
B
Hwang
Thomas
T
Atchaneeyakasul
La-Ongsri
LO
Chan
Chi-Chao
CC
Zhuang
Zhengping
Z
Stout
J Timothy
JT
Wilson
David J
DJ
D000293:Adolescent; D000328:Adult; D004273:DNA, Neoplasm / Q000032:analysis; D018325:Hemangioblastoma / Q000235:genetics* / Q000473:pathology / Q000601:surgery*; D006801:Humans; D019656:Loss of Heterozygosity; D008875:Middle Aged; D013508:Ophthalmologic Surgical Procedures; D016133:Polymerase Chain Reaction; D019572:Retinal Neoplasms / Q000235:genetics* / Q000473:pathology / Q000601:surgery*; D012189:Retrospective Studies; D014792:Visual Acuity; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics*
D004273:DNA, Neoplasm; D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human