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Ophthalmological manifestations of Fabry disease

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Published:1st Jan 2006
Author: Sodi A, Ioannidis A, and Pitz S.
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Ref.:Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006. Chapter 26

Ophthalmological manifestations are common in Fabry disease and result from the progressive deposition of glycosphingolipids in various ocular structures. The most specific ocular manifestations of Fabry disease are conjunctival vascular abnormalities, corneal opacities (cornea verticillata), lens opacities and retinal vascular abnormalities. These do not usually cause significant visual impairment or other ocular symptoms, but can nevertheless be important because they can act as markers of the disease, with diagnostic and prognostic implications. Being an external organ and easily investigated with minimally invasive technologies, the eye may be useful for monitoring the natural history of Fabry disease and the response to enzyme replacement therapy. FOS – the Fabry Outcome Survey –provides comprehensive data on the ocular manifestations of Fabry disease. As of March 2005, 173 of the 688 patients enrolled in FOS have undergone a detailed ophthalmological examination. Cornea verticillata was the most frequently reported ophthalmic abnormality in both hemizygous males and heterozygous females, and may represent a useful diagnostic marker. Tortuous vessels and Fabry cataracts were more frequent in males than in females. Vessel tortuosity was associated with a more rapid progression of the disease and may have some value in predicting systemic involvement.


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