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|Title:||Ophthalmic manifestations in Mexican patients with Fabry disease [Manifestaciones oftalmol�gicas en pacientes mexicanos con enfermedad de Fabry]|
|Abstract:||Fabry disease (FD) is a rare X-linked genetic lysosomal storage disease caused by a deficiency of the enzyme ?-galactosidase A, that produces accumulation of globotriaosylceramide. There is a multisystemic involvement, including renal, cardiac, eye, and nervous system manifestations. Aim: To perform a descriptive analysis of the ophthalmological manifestations in Mexican patients with FD. Material and methods: We studied 13 patients with clinical and biochemical diagnostic of FD. Results: Cornea verticillata was found in 57% of men and 33% carriers. Conclusion: Cornea verticillata was the most common ocular manifestation in males and carriers of FD in Mexico. � 2011 Sociedad Espa�ola de Oftalmologa. Published by Elsevier Espa�a, S.L. All rights reserved.|
|Appears in Collections:||Producción científica UdeG|
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