[Ophthalmic manifestations in Mexican patients with Fabry disease]. / Manifestaciones oftalmológicas en pacientes mexicanos con enfermedad de Fabry.
Arch Soc Esp Oftalmol
; 87(11): 373-5, 2012 Nov.
Article
em Es
| MEDLINE
| ID: mdl-23058197
UNLABELLED: 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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Fabry
/
Opacidade da Córnea
Tipo de estudo:
Etiology_studies
/
Incidence_studies
/
Prognostic_studies
Limite:
Adolescent
/
Adult
/
Female
/
Humans
/
Male
/
Middle aged
País/Região como assunto:
Mexico
Idioma:
Es
Revista:
Arch Soc Esp Oftalmol
Ano de publicação:
2012
Tipo de documento:
Article
País de publicação:
Espanha