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Case Reports
. 2022 Aug 15;13(2):584-588.
doi: 10.1159/000524926. eCollection 2022 May-Aug.

A Case of Fabry Disease with Central Retinal Artery Occlusion

Daisuke Nakata  1   2 , Hiroshi Okada  1 , Yoshiaki Shimada  2 , Atsuhiro Tanikawa  2 , Masayuki Horiguchi  2 , Yasuki Ito  2
Affiliations
Case Reports

A Case of Fabry Disease with Central Retinal Artery Occlusion

Daisuke Nakata et al. Case Rep Ophthalmol. .

Abstract

We report a case of Fabry disease diagnosed after recurrent cerebral infarction in a patient with central retinal artery occlusion (CRAO). A 23-year-old man presented with vision loss in his right eye (20/2000), showing CRAO. There was no identified cause for the loss of vision; however, corneal verticillata was detected in both eyes on the recurrence of the cerebral infarction. The α-galactosidase activity in leukocytes was significantly reduced to <0.3 nmol/mg of protein/hour, leading to a definitive diagnosis of Fabry disease. Enzyme replacement therapy was commenced concomitant to rehabilitation. It is necessary to identify Fabry disease as a cause of CRAO in young individuals, and the detection of cornea verticillata, used frequently as an ocular finding, is helpful.

Keywords: Central retinal artery occlusion; Cornea verticillata; Fabry disease.

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Conflict of interest statement

The authors have no conflicts of interest to declare.

Figures

Fig. 1
Fig. 1
Fundus image at the first consultation.aRight eye showing CRAO.bLeft eye.
Fig. 2
Fig. 2
Slit-lamp at the May 2021 re-examination. Cornea verticillata is seen in both eyes.
See this image and copyright information in PMC

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