Document Detail


Ophthalmic manifestations in Mexican patients with Fabry disease.
MedLine Citation:
PMID:  23058197     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Fabry disease (FD) is a rare X-linked genetic lysosomal storage disease caused by a deficiency of the enzyme α-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.
Authors:
K J Beltrán-Becerra; B E Ríos-González; B E Gutiérrez-Amavizca; D A Silva-Noriega; L E Figuera
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-5-24
Journal Detail:
Title:  Archivos de la Sociedad Espanola de Oftalmologia     Volume:  87     ISSN:  1989-7286     ISO Abbreviation:  Arch Soc Esp Oftalmol     Publication Date:  2012 Nov 
Date Detail:
Created Date:  2012-10-12     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  1304603     Medline TA:  Arch Soc Esp Oftalmol     Country:  -    
Other Details:
Languages:  ENG; SPA     Pagination:  373-375     Citation Subset:  -    
Copyright Information:
Copyright © 2011 Sociedad Española de Oftalmología. Published by Elsevier Espana. All rights reserved.
Affiliation:
Servicio de Oftalmología, Unidad Médica de Alta Especialidad, Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, México.
Vernacular Title:
Manifestaciones oftalmológicas en pacientes mexicanos con enfermedad de Fabry.
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