Ocular manifestations in a patient with de novo Fabry disease
10.12701/yujm.2018.35.2.232
- Author:
You Hyun LEE
1
;
Kyu Young SHIM
;
Sung Bae PARK
;
Yu Cheol KIM
Author Information
1. Department of Ophthalmology, Keimyung University School of Medicine, Daegu, Korea. eyedr@dsmc.or.kr
- Publication Type:Case Report
- Keywords:
Cornea verticillata;
De novo mutation;
Fabry disease
- MeSH:
Adult;
Aneurysm;
Angiography;
Asian Continental Ancestry Group;
Cornea;
Dilatation;
Fabry Disease;
Fluorescein Angiography;
Humans;
Indocyanine Green;
Male;
Metabolism;
Photography;
Slit Lamp;
Tomography, Optical Coherence
- From:Yeungnam University Journal of Medicine
2018;35(2):232-235
- CountryRepublic of Korea
- Language:English
-
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.
