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Retinal hyperreflective foci in Fabry disease

BACKGROUND: Fabry disease (FD) is an X-linked inherited storage disorder caused by deficiency of lysosomal alpha-Galactosidase A. Here we describe new retinal findings in patients with FD assessed by Spectral domain optical coherence tomography (SD-OCT) and their possible clinical relevance. METHODS...

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Autores principales: Atiskova, Yevgeniya, Rassuli, Rahman, Koehn, Anja Friederike, Golsari, Amir, Wagenfeld, Lars, du Moulin, Marcel, Muschol, Nicole, Dulz, Simon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6933914/
https://www.ncbi.nlm.nih.gov/pubmed/31878969
http://dx.doi.org/10.1186/s13023-019-1267-2
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author Atiskova, Yevgeniya
Rassuli, Rahman
Koehn, Anja Friederike
Golsari, Amir
Wagenfeld, Lars
du Moulin, Marcel
Muschol, Nicole
Dulz, Simon
author_facet Atiskova, Yevgeniya
Rassuli, Rahman
Koehn, Anja Friederike
Golsari, Amir
Wagenfeld, Lars
du Moulin, Marcel
Muschol, Nicole
Dulz, Simon
author_sort Atiskova, Yevgeniya
collection PubMed
description BACKGROUND: Fabry disease (FD) is an X-linked inherited storage disorder caused by deficiency of lysosomal alpha-Galactosidase A. Here we describe new retinal findings in patients with FD assessed by Spectral domain optical coherence tomography (SD-OCT) and their possible clinical relevance. METHODS: 54 eyes of 27 FD patients and 54 eyes of 27 control subjects were included. The ophthalmic examination included visual acuity testing, tonometry, slit lamp and fundus examination. SD-OCT imaging of the macula was performed in all subjects. Central retinal thickness and retinal nerve fiber layer analysis were quantified. Vessel tortuosity was obtained by a subjective scoring and mathematically calculated. Inner retinal hyperreflective foci (HRF) were quantified, clinically graded and correlated with a biomarker of Fabry disease (lyso-Gb3). RESULTS: In comparison to an age-matched control group, a significant amount of HRF was identified in macular SD-OCT images in FD patients. These HRF were localized within the inner retinal layers. Furthermore, lyso-Gb3 levels correlated significantly with the quantitative evaluation of HRF (p < 0,001). In addition, the vessel tortuosity was remarkably increased in FD patients compared to control persons and correlated significantly with lyso-G3 levels (p = 0.005). A further subanalysis revealed significantly higher HRF and vessel tortuosity scores in male patients with the classic FD phenotype. CONCLUSIONS: The observational, cross sectional, comparative study describes novel intraretinal findings in patients with FD. We were able to identify suspicious HRF within the inner retinal layers. These findings were not accompanied by functional limitations, as visual acuity remained unchanged. However, HRF correlated well with lyso-Gb3, a degradation product of the accumulating protein Gb3 and might potentially indicate Gb3 accumulation within the highly metabolic and densely vascularized macula.
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spelling pubmed-69339142019-12-30 Retinal hyperreflective foci in Fabry disease Atiskova, Yevgeniya Rassuli, Rahman Koehn, Anja Friederike Golsari, Amir Wagenfeld, Lars du Moulin, Marcel Muschol, Nicole Dulz, Simon Orphanet J Rare Dis Research BACKGROUND: Fabry disease (FD) is an X-linked inherited storage disorder caused by deficiency of lysosomal alpha-Galactosidase A. Here we describe new retinal findings in patients with FD assessed by Spectral domain optical coherence tomography (SD-OCT) and their possible clinical relevance. METHODS: 54 eyes of 27 FD patients and 54 eyes of 27 control subjects were included. The ophthalmic examination included visual acuity testing, tonometry, slit lamp and fundus examination. SD-OCT imaging of the macula was performed in all subjects. Central retinal thickness and retinal nerve fiber layer analysis were quantified. Vessel tortuosity was obtained by a subjective scoring and mathematically calculated. Inner retinal hyperreflective foci (HRF) were quantified, clinically graded and correlated with a biomarker of Fabry disease (lyso-Gb3). RESULTS: In comparison to an age-matched control group, a significant amount of HRF was identified in macular SD-OCT images in FD patients. These HRF were localized within the inner retinal layers. Furthermore, lyso-Gb3 levels correlated significantly with the quantitative evaluation of HRF (p < 0,001). In addition, the vessel tortuosity was remarkably increased in FD patients compared to control persons and correlated significantly with lyso-G3 levels (p = 0.005). A further subanalysis revealed significantly higher HRF and vessel tortuosity scores in male patients with the classic FD phenotype. CONCLUSIONS: The observational, cross sectional, comparative study describes novel intraretinal findings in patients with FD. We were able to identify suspicious HRF within the inner retinal layers. These findings were not accompanied by functional limitations, as visual acuity remained unchanged. However, HRF correlated well with lyso-Gb3, a degradation product of the accumulating protein Gb3 and might potentially indicate Gb3 accumulation within the highly metabolic and densely vascularized macula. BioMed Central 2019-12-26 /pmc/articles/PMC6933914/ /pubmed/31878969 http://dx.doi.org/10.1186/s13023-019-1267-2 Text en © The Author(s). 2019 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Research
Atiskova, Yevgeniya
Rassuli, Rahman
Koehn, Anja Friederike
Golsari, Amir
Wagenfeld, Lars
du Moulin, Marcel
Muschol, Nicole
Dulz, Simon
Retinal hyperreflective foci in Fabry disease
title Retinal hyperreflective foci in Fabry disease
title_full Retinal hyperreflective foci in Fabry disease
title_fullStr Retinal hyperreflective foci in Fabry disease
title_full_unstemmed Retinal hyperreflective foci in Fabry disease
title_short Retinal hyperreflective foci in Fabry disease
title_sort retinal hyperreflective foci in fabry disease
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6933914/
https://www.ncbi.nlm.nih.gov/pubmed/31878969
http://dx.doi.org/10.1186/s13023-019-1267-2
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