Ocular manifestations in a patient with de novo Fabry disease / 영남의대학술지
Yeungnam University Journal of Medicine
; : 232-235, 2018.
Article
en En
| WPRIM
| ID: wpr-787106
Biblioteca responsable:
WPRO
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.
Palabras clave
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Angiografía
/
Angiografía con Fluoresceína
/
Fotograbar
/
Enfermedad de Fabry
/
Córnea
/
Tomografía de Coherencia Óptica
/
Pueblo Asiatico
/
Dilatación
/
Lámpara de Hendidura
/
Verde de Indocianina
Límite:
Adult
/
Humans
/
Male
Idioma:
En
Revista:
Yeungnam University Journal of Medicine
Año:
2018
Tipo del documento:
Article