Open AccessA Case of Fabry Disease with Central Retinal Artery Occlusion
Author(s) -
Nakata Daisuke,
Okada Hiroshi,
Shimada Yoshiaki,
Tanikawa Atsuhiro,
Horiguchi Masayuki,
Ito Yasuki
Publication year - 2022
Publication title -
case reports in ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.299
H-Index - 17
ISSN - 1663-2699
DOI - 10.1159/000524926
Subject(s) - case report
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.