Ocular manifestations in a patient with de novo Fabry disease / 영남의대학술지
Yeungnam University Journal of Medicine
;
: 232-235, 2018.
Artigo
em Inglês
| WPRIM
| ID: wpr-787106
ABSTRACT
Fabry disease (FD) is an X-linked, recessively inherited, rare, progressive, disorder of glycosphingolipid metabolism affecting multiple organs resulting in organ dysfunction. It is rare to find only one FD affected subject with a de novo mutation. Here we report a case of a 41-year-old Asian male diagnosed with de novo FD. Comprehensive ophthalmological evaluation was performed using slit lamp, color fundus photography, optical coherence tomography, fluorescein angiography, and indocyanine green angiography. On slit lamp examination, cornea verticillata and slightly tortuous, and aneurysmal dilatation of inferior bulbar conjunctival vessels were observed. Other imaging modalities showed unremarkable findings. Cornea verticillata and inferior bulbar conjunctival vascular abnormalities may be detected earlier than other ocular abnormalities in de novo FDs like hereditary FDs.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Angiografia
/
Angiofluoresceinografia
/
Fotografação
/
Doença de Fabry
/
Córnea
/
Tomografia de Coerência Óptica
/
Povo Asiático
/
Dilatação
/
Lâmpada de Fenda
/
Verde de Indocianina
Limite:
Adulto
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Yeungnam University Journal of Medicine
Ano de publicação:
2018
Tipo de documento:
Artigo
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