Rodríguez-González-Herrero M E, Marín-Sánchez J M, Gimeno J R, Molero-Izquierdo C, De-Casas-Fernández A, Rodríguez-González-Herrero B, San-Román I, Lozano J, De-la-Morena G, Llovet-Osuna F
Hospital Universitario Virgen de la Arrixaca, Universidad de Murcia, Murcia, Spain.
Arch Soc Esp Oftalmol. 2008 Dec;83(12):713-7. doi: 10.4321/s0365-66912008001200006.
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.
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.
法布里病是一种由糖鞘脂分解代谢改变引起的疾病。我们报告了4例患者的眼科检查结果，这些患者是在对113例患者进行分析、心脏和遗传学评估后发现的。
法布里病并不常见，且眼部受累情况各异。一些法布里病患者没有眼部受累表现，而另一方面，也有健康携带者出现严重眼部病变的报道。糖鞘脂沉积会在角膜、晶状体、血管和视网膜层面产生影响。正如我们在患者中所报告的，血管病变不仅影响静脉，也影响动脉。
