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W. T. Wong, S. Yeh, C.-C. Chan, R. E. Kalina, J. L. Kinyoun, J. C. Folk, H. R. Coleman, E. Y. Chew; Retinal Vascular Proliferation as an Ocular Manifestation of von Hippel-Lindau (VHL) Disease. Invest. Ophthalmol. Vis. Sci. 2008;49(13):5685.
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To report the clinical features, natural history, and management of an unusual manifestation of ocular von Hippel-Lindau (VHL) disease in the form of fine vascular proliferation that is unlike the angiomatous lesions typically associated with ocular VHL disease.
Patients were assembled from an IRB-approved study protocol at the National Cancer Institute examining the multi-systemic manifestations of VHL disease. Genetic, systemic, and ophthalmic evaluation of patients were performed. Pathology of excised lesions, when available, was examined.
Retinal vascular proliferation consisting of fine superficial vessels was found in 16 eyes of 14 patients with VHL disease. Lesions were found in a juxtapapillary location and associated with fibrovascular component and/or a macular epiretinal membrane. In cases with follow-up, the lesion was stable in 7 of 13 eyes, but showed growth and progression resulting in vision loss in the remainder. In 5 eyes, surgical intervention with pars plana vitrectomy, membrane peel and excision of the fibrovascular lesion resulted in visual improvement in all cases. Pathology revealed fibrovascular tissue with no observable angiomatous component but demonstrated VEGF immunopositivity. Genetic analysis of germline mutations in the VHL gene did not reveal a pattern associated with this unusual lesion.
VHL disease is a rare, inherited, multisystemic cancer syndrome with typical retinal findings. Our observations reveal another unusual and novel manifestation of ocular VHL disease in the form of fine, superficial, juxtapapillary vessels that are associated with fibrovascular proliferation and epiretinal membrane formation. The progression of the disease is different to that seen with angiomatous lesions and is associated with tractional effects rather than exudative changes. Unlike juxtapapillary angiomatous lesions, these lesions may be successfully managed by surgical excision. Both missense and partial deletion germline mutations in the VHL gene are capable of giving rise to the lesion. Future molecular analysis involving loss-of-heterozygosity and expression of downstream genes may clarify of the pathogenesis of VHL-associated lesions in the retina.
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