Ocular findings in Fabry disease in Colombian patients
Biomédica (Bogotá); 39 (3), 2019
ABSTRACT Fabry disease is a rare X-linked disorder caused by an alpha-galactosidase enzyme deficiency, which leads to a progressive lysosomal glycosphingolipids accumulation, mainly globotriaosylceramide, in multiple organism tissues including the eye. This case series describes the first ophthalmologica...
Oftalmopatías/diagnóstico, Enfermedad de Fabry/complicaciones, Ambliopía/diagnóstico, Catarata/diagnóstico, Colombia, Conjuntiva/anomalías, Conjuntiva/irrigación sanguínea, Enfermedad de Fabry/genética, Heterocigoto, Aparato Lagrimal/anomalías, Errores de Refracción/diagnóstico, Vasos Retinianos/anomalías