A Case of Fabry Disease with Central Retinal Artery Occlusion

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.

Object Details

• Location: Deutsche Nationalbibliothek Frankfurt am Main
• Extent: Online-Ressource
• Language: Englisch

References and Relationships

• Bibliographic citation: A Case of Fabry Disease with Central Retinal Artery Occlusion ; volume:13 ; number:2 ; year:2022 ; pages:584-588 ; extent:5 ; Case reports in ophthalmology ; 13, Heft 2 (2022), 584-588 (gesamt 5)

Contributors, Places and Time

• Creator: Nakata, Daisuke ; Okada, Hiroshi ; Shimada, Yoshiaki ; Tanikawa, Atsuhiro ; Horiguchi, Masayuki ; Ito, Yasuki

Further information

• DOI: 10.1159/000524926
• URN: urn:nbn:de:101:1-2022092201025223067658
• Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
• Last update: 15.08.2025, 7:36 AM CEST