[Ophthalmological manifestations in Fabry's disease. Four clinical cases showing deficient alpha-galactosidase-A activity]

Arch Soc Esp Oftalmol 83(12):713-7 (2008) PMID 19085643

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.