Optical coherence tomography angiography analysis of fabry disease



Fabry disease (FD) is characterized by a deficiency in α-galactosidase A activity that leads to the cumulative deposition of unmetabolized glycosphingolipids within organs, including the vascular endothelium and the eyes. The purpose of this study was to assess the effects of FD on the retinal microvasculature, foveal avascular zone (FAZ), macular thickness and retinal nerve fiber layer (RNFL) using optical coherence tomography angiography (OCT-A).


Twenty-five patients (14 female and 11 male; mean age 33.16 ± 11.44) with genetically verified FD were compared with 37 age- and sex-matched healthy controls (mean age 32.36 ± 15.54). The vessel density (VD) values of the superficial and deep capillary plexuses (SCP and DCP), the area of the FAZ, the density of radial peripapillary capillaries (RPC), the macular thickness and the retinal nerve fiber layer thickness were measured by OCT-A examination.


The patients showed significantly lower VD values than controls in the foveal regions of both SCP and the DCP (21.15 ± 5.56 vs. 23.79 ± 4.64 (p = 0.048), 37.92 ± 6.78 vs. 41.11 ± 5.59 (p = 0.048), respectively). The FAZ was significantly larger in the FD group than in the control group (0.3 ± 0.1 vs. 0.24 ± 0.08 (p = 0.011)). No significant difference was identified in measurements of RPC density, peripapillary RNFL thickness or macular thickness between the two groups (p > 0.05 for all).


Decreased VD and an enlarged foveal avascular area suggest possible changes in the retinal microvasculature of patients with FD. OCT-A can serve as a useful, noninvasive, quantitative tool for diagnosing FD and monitoring its progression.

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Scientific Research Projects Management Unit of Hatay Mustafa Kemal University (TR).


This study was supported and funded by grants from the Scientific Research Projects Management Unit of Hatay Mustafa Kemal University (TR). The Grant number is 18.A.006.

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Correspondence to Ayse Idil Cakmak.

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The present study was approved by the Ethics Committee of Hatay Mustafa Kemal University Tayfur Ata Sokmen Medical Faculty. All procedures in the study were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.

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Cakmak, A.I., Atalay, E., Cankurtaran, V. et al. Optical coherence tomography angiography analysis of fabry disease. Int Ophthalmol (2020). https://doi.org/10.1007/s10792-020-01486-2

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  • Fabry disease
  • Optical coherence tomography angiography
  • Retinal vessel density
  • Radial peripapillary capillaries
  • Peripapillary retinal nerve fiber layer