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Optical Coherence Tomography Angiography Findings in Fabry Disease

Background: Fabry disease (FD) is a X-linked recessive lysosomal storage disorder characterized by altered biodegradation of glycosphingolipids. It is a multisystem pathology, also involving ophthalmological systems that show modifications of the vessel wall due to glycosphingolipid deposits. Optica...

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Autores principales: Cennamo, Gilda, Di Maio, Laura Giovanna, Montorio, Daniela, Tranfa, Fausto, Russo, Camilla, Pontillo, Giuseppe, Cocozza, Sirio, Esposito, Roberta, Di Risi, Teodolinda, Imbriaco, Massimo, Spinelli, Letizia, Riccio, Eleonora, Pisani, Antonio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6517973/
https://www.ncbi.nlm.nih.gov/pubmed/30999633
http://dx.doi.org/10.3390/jcm8040528
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author Cennamo, Gilda
Di Maio, Laura Giovanna
Montorio, Daniela
Tranfa, Fausto
Russo, Camilla
Pontillo, Giuseppe
Cocozza, Sirio
Esposito, Roberta
Di Risi, Teodolinda
Imbriaco, Massimo
Spinelli, Letizia
Riccio, Eleonora
Pisani, Antonio
author_facet Cennamo, Gilda
Di Maio, Laura Giovanna
Montorio, Daniela
Tranfa, Fausto
Russo, Camilla
Pontillo, Giuseppe
Cocozza, Sirio
Esposito, Roberta
Di Risi, Teodolinda
Imbriaco, Massimo
Spinelli, Letizia
Riccio, Eleonora
Pisani, Antonio
author_sort Cennamo, Gilda
collection PubMed
description Background: Fabry disease (FD) is a X-linked recessive lysosomal storage disorder characterized by altered biodegradation of glycosphingolipids. It is a multisystem pathology, also involving ophthalmological systems that show modifications of the vessel wall due to glycosphingolipid deposits. Optical coherence tomography angiography (OCT-A) allows for an objective analysis of retinal microvasculature alterations, evaluating retinal vessel density in macular region. Methods: A total of 54 FD patients (34 females, 20 males, mean age 44.1 ± 15.6 years) and 70 controls (36 females, 34 males, mean age 42.3 ± 15.6 years) were included in this study. We evaluated vessel density in different macular areas (whole image, fovea, and parafovea) of both the superficial capillary plexus (SCP) and of the deep capillary plexus (DCP). Results: In the SCP there was a significantly lower vascular density in patients compared with controls in whole image (49.95 ± 5.17% vs. 51.99 ± 2.52%; p < 0.001), parafovea (52.01 ± 6.69% vs. 54.30 ± 2.61%; p = 0.002), and fovea (22.38 ± 9.01% vs. 29.31 ± 5.84%; p < 0.0001). In the DCP the vessel density was statistically increased in each macular area in patients compared with controls (54.82 ± 8.07% vs. 50.93 ± 5.46%; p = 0.005, 57.76 ± 7.26% vs. 53.59 ± 5.46%; p = 0.0001, and 39.75 ± 8.59% vs. 34.43 ± 8.68%; p < 0.0001 for whole image, parafovea, and fovea, respectively). Conclusion: OCT-A analysis showed that the macular vessel density was significantly reduced in the SCP and increased in the DCP in FD patients compared with controls. These findings, which might be a consequence of the alteration of vascular wall occurring in FD, support the hypothesis that the evaluation of early retinal microvascular network changes could be a useful tool in the clinical evaluation of the disease.
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spelling pubmed-65179732019-05-31 Optical Coherence Tomography Angiography Findings in Fabry Disease Cennamo, Gilda Di Maio, Laura Giovanna Montorio, Daniela Tranfa, Fausto Russo, Camilla Pontillo, Giuseppe Cocozza, Sirio Esposito, Roberta Di Risi, Teodolinda Imbriaco, Massimo Spinelli, Letizia Riccio, Eleonora Pisani, Antonio J Clin Med Article Background: Fabry disease (FD) is a X-linked recessive lysosomal storage disorder characterized by altered biodegradation of glycosphingolipids. It is a multisystem pathology, also involving ophthalmological systems that show modifications of the vessel wall due to glycosphingolipid deposits. Optical coherence tomography angiography (OCT-A) allows for an objective analysis of retinal microvasculature alterations, evaluating retinal vessel density in macular region. Methods: A total of 54 FD patients (34 females, 20 males, mean age 44.1 ± 15.6 years) and 70 controls (36 females, 34 males, mean age 42.3 ± 15.6 years) were included in this study. We evaluated vessel density in different macular areas (whole image, fovea, and parafovea) of both the superficial capillary plexus (SCP) and of the deep capillary plexus (DCP). Results: In the SCP there was a significantly lower vascular density in patients compared with controls in whole image (49.95 ± 5.17% vs. 51.99 ± 2.52%; p < 0.001), parafovea (52.01 ± 6.69% vs. 54.30 ± 2.61%; p = 0.002), and fovea (22.38 ± 9.01% vs. 29.31 ± 5.84%; p < 0.0001). In the DCP the vessel density was statistically increased in each macular area in patients compared with controls (54.82 ± 8.07% vs. 50.93 ± 5.46%; p = 0.005, 57.76 ± 7.26% vs. 53.59 ± 5.46%; p = 0.0001, and 39.75 ± 8.59% vs. 34.43 ± 8.68%; p < 0.0001 for whole image, parafovea, and fovea, respectively). Conclusion: OCT-A analysis showed that the macular vessel density was significantly reduced in the SCP and increased in the DCP in FD patients compared with controls. These findings, which might be a consequence of the alteration of vascular wall occurring in FD, support the hypothesis that the evaluation of early retinal microvascular network changes could be a useful tool in the clinical evaluation of the disease. MDPI 2019-04-17 /pmc/articles/PMC6517973/ /pubmed/30999633 http://dx.doi.org/10.3390/jcm8040528 Text en © 2019 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Cennamo, Gilda
Di Maio, Laura Giovanna
Montorio, Daniela
Tranfa, Fausto
Russo, Camilla
Pontillo, Giuseppe
Cocozza, Sirio
Esposito, Roberta
Di Risi, Teodolinda
Imbriaco, Massimo
Spinelli, Letizia
Riccio, Eleonora
Pisani, Antonio
Optical Coherence Tomography Angiography Findings in Fabry Disease
title Optical Coherence Tomography Angiography Findings in Fabry Disease
title_full Optical Coherence Tomography Angiography Findings in Fabry Disease
title_fullStr Optical Coherence Tomography Angiography Findings in Fabry Disease
title_full_unstemmed Optical Coherence Tomography Angiography Findings in Fabry Disease
title_short Optical Coherence Tomography Angiography Findings in Fabry Disease
title_sort optical coherence tomography angiography findings in fabry disease
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6517973/
https://www.ncbi.nlm.nih.gov/pubmed/30999633
http://dx.doi.org/10.3390/jcm8040528
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