Letters to the editor
Risk of multisystem disease in isolated ocular angioma (haemangioblastoma)
| The first 150 words of the full text of this article appear below. |
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
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This article has been cited by other articles:
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Singh, A. D., Shields, J. A., Shields, C. L.
(2001). Solitary Retinal Capillary Hemangioma: Hereditary (von Hippel-Lindau Disease) or Nonhereditary?. Arch Ophthalmol
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