A Case of Fabry Disease with Central Retinal Artery Occlusion

Daisuke Nakata; Hiroshi Okada; Yoshiaki Shimada; Atsuhiro Tanikawa; Masayuki Horiguchi; Yasuki Ito

doi:10.1159/000524926

A Case of Fabry Disease with Central Retinal Artery Occlusion

Daisuke Nakata, Hiroshi Okada, Yoshiaki Shimada, Atsuhiro Tanikawa, Masayuki Horiguchi, Yasuki Ito

Research output: Contribution to journal › Article › peer-review

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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.

Original language	English
Pages (from-to)	584-588
Number of pages	5
Journal	Case Reports in Ophthalmology
Volume	13
Issue number	2
DOIs	https://doi.org/10.1159/000524926
Publication status	Published - 15-08-2022
Externally published	Yes

All Science Journal Classification (ASJC) codes

Ophthalmology

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10.1159/000524926

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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.",

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AU - Nakata, Daisuke

AU - Okada, Hiroshi

AU - Shimada, Yoshiaki

AU - Tanikawa, Atsuhiro

AU - Horiguchi, Masayuki

AU - Ito, Yasuki

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AB - 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.

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A Case of Fabry Disease with Central Retinal Artery Occlusion

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