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Risk of multisystem disease in isolated ocular angioma (haemangioblastoma)
  3. ALAN C BIRD*,
  1. *Moorfields Eye Hospital, London, UK †Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, UK ‡Ophthalmology Department, Addenbrooke's Hospital, Cambridge, UK

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    Editor—Ocular angioma (haemangioblastoma) is the most common presenting feature of the multisystem familial cancer syndrome von Hippel-Lindau disease (VHL).1 Recognition of VHL is important because of the opportunity to reduce morbidity and mortality by early diagnosis of renal cell carcinoma, phaeochromocytoma, and cerebellar, spinal, and ocular haemangioblastomas. Although the finding of typical and multiple ocular lesions indicates VHL, the risk of multisystem disease in those presenting with a single ocular lesion has not been determined. That such risk exists is shown by the presence of patients with solitary angiomas in families with VHL, and the identification of mutations in the VHL gene in affected subjects without a family history of disease owing to non-penetrance for VHL manifestations in relatives and a significant new mutation rate. Consequently, the management of patients with a solitary ocular lesion may be inappropriate, such that patients with VHL may be falsely reassured, and others without symptoms may be subjected to unnecessary surveillance. On the basis of previous estimates, we have used a Baysian approach to calculate approximate risks for VHL disease in a patient presenting with a single ocular angioma in the context of other clinical and molecular information available.

    The proportion of VHL patients who have a solitary ocular angioma after ophthalmic examination has been calculated in previous work on a cohort of …

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