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Thomas Schlesinger, MD, PhD; Binoy Appukuttan, PhD; Thomas Hwang, MD; La-ongsri Atchaneeyakasul, MD; Chi-Chao Chan, MD; Zhengping Zhuang, MD; J. Timothy Stout, MD, PhD, MBA; David J. Wilson, MD

Arch Ophthalmol. 2007;125(9):1189-1193.

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.

Author Affiliations: Casey Eye Institute, Oregon Health & Science University, Portland (Drs Schlesinger, Appukuttan, Hwang, Atchaneeyakasul, Stout, and Wilson); and Immunopathology Section, National Eye Institute (Dr Chan), and Laboratory of Pathology, National Cancer Institute (Dr Zhuang), National Institutes of Health, Bethesda, Maryland. Dr Schlesinger is now in private practice in Santa Rosa, California. Dr Atchaneeyakasul is now with the Department of Ophthalmology, Mahidol University, Bangkok, Thailand.

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