Internal en bloc resection and genetic analysis of retinal capillary hemangioblastoma

Thomas Schlesinger, Binoy Appukuttan, Thomas Hwang, La Ongsri Atchaneeyakasul, Chi Chao Chan, Zhengping Zhuang, J. Timothy Stout, David J. Wilson

Research output: Contribution to journalArticle

18 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1189-1193
Number of pages5
JournalArchives of ophthalmology
Volume125
Issue number9
DOIs
StatePublished - Sep 2007

ASJC Scopus subject areas

  • Ophthalmology

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    Schlesinger, T., Appukuttan, B., Hwang, T., Atchaneeyakasul, L. O., Chan, C. C., Zhuang, Z., Stout, J. T., & Wilson, D. J. (2007). Internal en bloc resection and genetic analysis of retinal capillary hemangioblastoma. Archives of ophthalmology, 125(9), 1189-1193. https://doi.org/10.1001/archopht.125.9.1189