Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12104/43374
Title: Ophthalmic manifestations in Mexican patients with Fabry disease [Manifestaciones oftalmol�gicas en pacientes mexicanos con enfermedad de Fabry]
Author: Beltran-Becerra, K.J.
Rios-Gonzalez, B.E.
Gutierrez-Amavizca, B.E.
Silva-Noriega, D.A.
Figuera, L.E.
Issue Date: 2012
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.
URI: http://www.scopus.com/inward/record.url?eid=2-s2.0-84867577024&partnerID=40&md5=d58ac3d6233db7f911848b1d34342368
http://hdl.handle.net/20.500.12104/43374
Appears in Collections:Producción científica UdeG

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