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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
[Ophthalmological manifestations in Fabry's disease. Four clinical cases showing deficient alpha-galactosidase-A
M E Rodríguez-González-Herrero1, J M Marín-Sánchez, J R Gimeno
1Hospital Universitario Virgen de la Arrixaca, Universidad de Murcia, Murcia, Spain. mariaelenargh@hotmail.com
Case Report:
Fabry's 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:
Fabry's disease is uncommon and shows variable ophthalmologic affectation. Some patients with Fabry's 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.
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