Document Detail

Ophthalmic manifestations in Mexican patients with Fabry disease.
MedLine Citation:
PMID:  23058197     Owner:  NLM     Status:  Publisher    
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.
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.
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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