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Archivos de la Sociedad Española de Oftalmología
versão impressa ISSN 0365-6691
Resumo
RODRIGUEZ-GONZALEZ-HERRERO, M.E. et al. Ophthalmological manifestations in Fabry's Disease: Four clinical cases showing deficient Alpha-Galactosidase-A activity. Arch Soc Esp Oftalmol [online]. 2008, vol.83, n.12, pp.713-717. ISSN 0365-6691.
Case report: Fabrys disease is an illness produced by an alteration in the catabolism of the glycosphingolipids. We report ophthalmologic findings in 4 people, detected after 113 patient evaluations from an analytical, cardiological and genetic point of view. Discussion: Fabrys disease is uncommon and shows variable ophthalmologic affectation. Some patients with Fabrys disease do not present ocular affectation, while, on the other hand, healthy carriers with important ocular alterations have been described. The deposit of glycosphingolipids produces affectation at the corneal, crystalline, vascular and retinal levels. The vascular alterations affect not only the veins but also the arteries, as we report in our patients.
Palavras-chave : Fabrys Disease; alpha-galactosidase-A; vasculopathy.