{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T00:24:11Z","timestamp":1778199851460,"version":"3.51.4"},"reference-count":45,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,3,9]],"date-time":"2021-03-09T00:00:00Z","timestamp":1615248000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"abstract":"<jats:p><jats:bold>Purpose:<\/jats:bold> Optical coherence tomography angiography (OCTA) is a non-invasive and objective tool for the evaluation of the retinal microvascular changes in Fabry disease (FD). We investigated changes in retinal vasculature in FD patients, and the possible correlation with systemic parameters, by using OCTA, and reviewed the current status of literature.<\/jats:p><jats:p><jats:bold>Methods:<\/jats:bold> Thirteen FD patients (eight females, five males, mean age 49.85 \u00b1 14.7 years) were compared with 13 age- and sex-matched healthy controls. OCTA 3 \u00d7 3 mm macular scans were performed in all subjects. We evaluated the vessel density and vessel perfusion in distinct macular areas (whole, inner, and outer) of both the superficial capillary plexus (SCP VD and SCP VP) and of the deep capillary plexus (DCP VD and DCP VP). We also evaluated the foveal avascular zone (FAZ) metrics (area, perimeter, and circularity), and correlation between systemic and OCTA parameters. A literature review on the current understanding of OCTA in FD is then presented.<\/jats:p><jats:p><jats:bold>Results:<\/jats:bold> FD patients showed significantly lower SCP VD values in the whole area (17.37 \u00b1 2.08 mm<jats:sup>\u22121<\/jats:sup> vs. 18.54 \u00b1 1.21 mm<jats:sup>\u22121<\/jats:sup>; <jats:italic>p<\/jats:italic>-value 0.022), as well as in the outer area (17.46 \u00b1 2.10 mm<jats:sup>\u22121<\/jats:sup> vs. 19.08 \u00b1 1.14 mm<jats:sup>\u22121<\/jats:sup>; <jats:italic>p<\/jats:italic>-value 0.002), but not in the inner. Even the DCP VD was significantly lower in all the imaged areas: whole (17.75 \u00b1 3.93 mm<jats:sup>\u22121<\/jats:sup> vs. 19.71 \u00b1 1.20 mm<jats:sup>\u22121<\/jats:sup>; <jats:italic>p<\/jats:italic>-value 0.024), outer (18.25 \u00b1 4.17 mm<jats:sup>\u22121<\/jats:sup> vs. 20.33 \u00b1 1.20 mm<jats:sup>\u22121<\/jats:sup>; <jats:italic>p<\/jats:italic>-value 0.023), and inner (19.54 \u00b1 4.17 mm<jats:sup>\u22121<\/jats:sup> vs. 21.96 \u00b1 1.55 mm<jats:sup>\u22121<\/jats:sup>; <jats:italic>p<\/jats:italic>-value 0.011). There were no significant differences in vessel perfusion parameters (both SCP VP and DCP VP ones) and FAZ. No significant correlations were found between the OCTA parameters and systemic parameters (maximal left ventricular wall thickness and glomerular filtration rate) in FD patients.<\/jats:p><jats:p><jats:bold>Conclusions:<\/jats:bold> OCTA can be considered as a promising non-invasive tool, which enables a quantitative evaluation of retinal vascular involvement in FD, despite the varying data reported in literature. Our results support the use of OCTA as an objective tool to evaluate retinal vascular abnormalities in FD. The utility of OCTA in FD needs to be validated by longitudinal studies taking into account the overall progression of the disease.<\/jats:p>","DOI":"10.3389\/fneur.2021.640719","type":"journal-article","created":{"date-parts":[[2021,3,29]],"date-time":"2021-03-29T11:40:30Z","timestamp":1617018030000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":7,"title":["Optical Coherence Tomography Angiography for the Evaluation of Retinal Vasculature in Fabry Disease: Our Experience and Review of Current Knowledge"],"prefix":"10.3389","volume":"12","author":[{"given":"Daniela","family":"Bacherini","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giulio","family":"Vicini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Nicolosi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilaria","family":"Tanini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiara","family":"Lenzetti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucia","family":"Finocchio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lino Calogero","family":"Cirami","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Egrina","family":"Dervishi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stanislao","family":"Rizzo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gianni","family":"Virgili","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabrizio","family":"Giansanti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Sodi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2021,3,9]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"174","DOI":"10.1159\/000060184","article-title":"Fabry disease (alpha-galactosidase A deficiency): renal involvement and enzyme replacement therapy","volume":"136","author":"Desnick","year":"2001","journal-title":"Contrib Nephrol."},{"key":"B2","doi-asserted-by":"publisher","first-page":"449","DOI":"10.1007\/BF01606034","article-title":"Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease","volume":"417","author":"Elleder","year":"1990","journal-title":"Virchows Arch Pathol Anat Histopathol."},{"key":"B3","doi-asserted-by":"publisher","first-page":"288","DOI":"10.1056\/NEJM199508033330504","article-title":"An atypical variant of Fabry's disease in men with left ventricular hypertrophy","volume":"333","author":"Nakao","year":"1995","journal-title":"N Engl J Med."},{"key":"B4","doi-asserted-by":"publisher","first-page":"801","DOI":"10.1046\/j.1523-1755.2003.00160.x","article-title":"Fabry disease: detection of undiagnosed hemodialysis patients and identification of a \u201crenal variant\u201d phenotype","volume":"64","author":"Nakao","year":"2003","journal-title":"Kidney Int."},{"key":"B5","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1007\/s004399900075","article-title":"The frequency of lysosomal storage diseases in the Netherlands","volume":"105","author":"Poorthuis","year":"1999","journal-title":"Hum Genet."},{"key":"B6","doi-asserted-by":"publisher","first-page":"249","DOI":"10.1001\/jama.281.3.249","article-title":"Prevalence of lysosomal storage disorders","volume":"281","author":"Meikle","year":"1999","journal-title":"JAMA"},{"key":"B7","doi-asserted-by":"publisher","first-page":"112","DOI":"10.1016\/j.ymgme.2007.09.013","article-title":"Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry","volume":"93","author":"Wilcox","year":"2008","journal-title":"Mol Genet Metab"},{"key":"B8","article-title":"Neurological manifestations of Fabry disease","volume-title":"Fabry Disease: Perspectives From 5 Years of FOS","author":"Schiffmann","year":"2006"},{"key":"B9","article-title":"Ophthalmological manifestations of Fabry disease","volume-title":"Fabry Disease: Perspectives From 5 Years of FOS","author":"Sodi","year":"2006"},{"key":"B10","doi-asserted-by":"publisher","first-page":"539","DOI":"10.1097\/01.gim.0000237866.70357.c6","article-title":"Fabry disease: guidelines for the evaluation and management of multi-organ system involvement","volume":"8","author":"Eng","year":"2006","journal-title":"Gene Med."},{"key":"B11","doi-asserted-by":"publisher","first-page":"351","DOI":"10.1016\/bs.ctdb.2018.12.008","article-title":"Eye organogenesis: a hierarchical view of ocular development","volume":"132","author":"Miesfeld","year":"2019","journal-title":"Curr Top Dev Biol."},{"key":"B12","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1097\/WNO.0000000000000888","article-title":"Retinal vascular signs and cerebrovascular diseases","volume":"40","author":"Rim","year":"2020","journal-title":"J Neuroophthalmol."},{"key":"B13","doi-asserted-by":"publisher","first-page":"588515","DOI":"10.3389\/fnins.2020.588515","article-title":"Optical coherence tomography angiography reveals distinct retinal structural and microvascular abnormalities in cerebrovascular disease","volume":"14","author":"Zhang","year":"2020","journal-title":"Front Neurosci."},{"key":"B14","unstructured":"Optical coherence tomography angiography in Fabry disease2838\n            FinocchioL\n            SodiA\n            BacheriniD\n            LenzettiC\n            BerniA\n            MuccioloP\n          Investig Ophthalmol Vis Sci.592018"},{"key":"B15","unstructured":"Density of the retinal blood flow and thickness mapping by spectralis OCT in patients with Fabry disease5460\n            HufendiekK\n            KaufeldJ\n            VolkmannI\n            BrockmannD\n            AweM\n            KromerR\n          Investig Ophthalmol Vis Sci.592018"},{"key":"B16","unstructured":"Optical coherence tomography angiography findings in patients with Fabry's disease4249\n            BaurJ\n            Al-SheikhM\n            BarthelmesD\n            NowakA\n            B\u00f6niC\n            Anne ZweifelS\n          Investig Ophthalmol Vis Sci.592018"},{"key":"B17","doi-asserted-by":"publisher","first-page":"528","DOI":"10.3390\/jcm8040528","article-title":"Optical coherence tomography angiography findings in Fabry disease","volume":"8","author":"Cennamo","year":"2019","journal-title":"J Clin Med."},{"key":"B18","doi-asserted-by":"publisher","first-page":"2667","DOI":"10.1167\/iovs.18-26052","article-title":"Macular impairment in Fabry disease: a morpho-functional assessment by swept-source OCT angiography and focal electroretinography","volume":"60","author":"Minnella","year":"2019","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"B19","doi-asserted-by":"publisher","first-page":"3023","DOI":"10.1007\/s10792-020-01486-2","article-title":"Optical coherence tomography angiography analysis of fabry disease","volume":"40","author":"Cakmak","year":"2020","journal-title":"Int Ophthalmol."},{"key":"B20","doi-asserted-by":"publisher","first-page":"1120672120974288","DOI":"10.1177\/1120672120974288","article-title":"Evaluation of the reasons for the microvascular changes in patients with Fabry disease using optic coherence tomography angiography","volume":"22","author":"Dogan","year":"2020","journal-title":"Eur J Ophthalmol."},{"key":"B21","doi-asserted-by":"publisher","first-page":"5997","DOI":"10.2174\/13816128113199990353","article-title":"Fabry disease and cardiovascular involvement","volume":"19","author":"Anastasakis","year":"2013","journal-title":"Curr Pharm Des"},{"key":"B22","doi-asserted-by":"publisher","first-page":"S220","DOI":"10.1016\/S0248-8663(10)70016-3","article-title":"L\u00e9sions r\u00e9nales dans la maladie de Fabry (Renal lesions in patients with Fabry's disease]","volume":"31","author":"Gubler","year":"2010","journal-title":"Rev Med Interne."},{"key":"B23","doi-asserted-by":"publisher","first-page":"258","DOI":"10.1016\/j.jns.2007.01.053","article-title":"The cerebral vasculopathy of Fabry disease","volume":"257","author":"Moore","year":"2007","journal-title":"J Neurol Sci"},{"key":"B24","doi-asserted-by":"publisher","first-page":"258","DOI":"10.1111\/aos.12588","article-title":"Ophthalmic experience over 10 years in an observational nationwide Danish cohort of Fabry patients with access to enzyme replacement","volume":"93","author":"Fledelius","year":"2015","journal-title":"Acta Ophthalmol."},{"key":"B25","doi-asserted-by":"publisher","first-page":"671","DOI":"10.1001\/archopht.1979.01020010327008","article-title":"The ocular manifestations in Fabry's disease","volume":"97","author":"Sher","year":"1979","journal-title":"Arch Ophthalmol."},{"key":"B26","doi-asserted-by":"publisher","first-page":"210","DOI":"10.1136\/bjo.2006.100602","article-title":"Ocular manifestations of Fabry's disease: data from the Fabry outcome survey","volume":"91","author":"Sodi","year":"2007","journal-title":"Br J Ophthalmol"},{"key":"B27","doi-asserted-by":"publisher","first-page":"260","DOI":"10.1111\/j.1399-0004.2008.01012.x","article-title":"Enzyme replacement therapy with agalsidase alfa in a cohort of Italian patients with Anderson-Fabry disease: testing the effects with the mainz severity score index","volume":"74","author":"Parini","year":"2008","journal-title":"Clin Genet."},{"key":"B28","doi-asserted-by":"publisher","first-page":"S66","DOI":"10.5414\/CPP47066","article-title":"Anderson-Fabry disease: developments in diagnosis and treatment","volume":"47","author":"Mehta","year":"2009","journal-title":"Int J Clin Pharm"},{"key":"B29","doi-asserted-by":"publisher","first-page":"83","DOI":"10.1159\/000310318","article-title":"Ischemic optic neuropathy in a female carrier with Fabry's disease. Ophthalmologica","volume":"205","author":"Abe","year":"1992"},{"key":"B30","doi-asserted-by":"publisher","first-page":"165","DOI":"10.3109\/13816810903148004","article-title":"Subclinical optic neuropathy in Fabry disease","volume":"30","author":"Pitz","year":"2009","journal-title":"Ophthalmic Genet"},{"key":"B31","doi-asserted-by":"publisher","first-page":"592","DOI":"10.1097\/IAE.0000000000001177","article-title":"Computer assisted retinal vessel tortuosity evaluation in novel mutation Fabry disease: towards new prognostic markers","volume":"37","author":"San","year":"2017","journal-title":"Retina."},{"key":"B32","doi-asserted-by":"publisher","first-page":"e113","DOI":"10.1111\/j.1755-3768.2012.02576.x","article-title":"Computer assisted evaluation of retinal vessels tortuosity in Fabry disease","volume":"91","author":"Sodi","year":"2013","journal-title":"Acta Ophthalmol."},{"key":"B33","doi-asserted-by":"publisher","first-page":"4696429","DOI":"10.1155\/2019\/4696429","article-title":"Quantitative analysis of conjunctival and retinal vessels in Fabry disease","volume":"2019","author":"Sodi","year":"2019","journal-title":"J Ophthalmol"},{"key":"B34","doi-asserted-by":"publisher","first-page":"1120672119886985","DOI":"10.1177\/1120672119886985","article-title":"Computer-assisted retinal vessel diameter evaluation in Fabry disease","volume":"13","author":"Sodi","year":"2019","journal-title":"Eur J Ophthalmol."},{"key":"B35","doi-asserted-by":"publisher","first-page":"1623","DOI":"10.1097\/IAE.0000000000002648","article-title":"In vivo observation of retinal vascular deposits using adaptive optics imaging in Fabry disease","volume":"40","author":"Sodi","year":"2019","journal-title":"Retina"},{"key":"B36","doi-asserted-by":"publisher","first-page":"5686894","DOI":"10.1155\/2020\/5686894","article-title":"The difference in repeatability of automated superficial retinal vessel density according to the measurement area using OCT angiography","volume":"2020","author":"Lim","year":"2020","journal-title":"J Ophthalmol"},{"key":"B37","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1016\/j.ajo.2018.05.029","article-title":"Topographic macular microvascular changes and correlation with visual loss in chronic leber hereditary optic neuropathy","volume":"192","author":"Borrelli","year":"2018","journal-title":"Am J Ophthalmol"},{"key":"B38","doi-asserted-by":"publisher","first-page":"e12555","DOI":"10.1111\/micc.12555","article-title":"Early retinal microvascular abnormalities in patients with chronic kidney disease","volume":"26","author":"Yeung","year":"2019","journal-title":"Microcirculation."},{"key":"B39","doi-asserted-by":"publisher","first-page":"1132","DOI":"10.1681\/ASN.2008080870","article-title":"Agalsidase alfa and kidney dysfunction in Fabry disease","volume":"20","author":"West","year":"2009","journal-title":"J Am Soc Nephrol"},{"key":"B40","doi-asserted-by":"publisher","first-page":"4087","DOI":"10.3390\/jcm9124087","article-title":"The retinal vessel density as a new vascular biomarker in multisystem involvement in Fabry disease: an optical coherence tomography angiography study","volume":"9","author":"Cennamo","year":"2020","journal-title":"J Clin Med."},{"key":"B41","doi-asserted-by":"publisher","first-page":"1363","DOI":"10.1093\/eurjhf\/hft104","article-title":"Coronary microvascular dysfunction is an early feature of cardiac involvement in patients with Anderson-Fabry disease","volume":"15","author":"Tomberli","year":"2013","journal-title":"Eur J Heart Fail."},{"key":"B42","doi-asserted-by":"publisher","first-page":"572","DOI":"10.1097\/HJH.0000000000001916","article-title":"Impact of hypertension on retinal capillary microvasculature using optical coherence tomographic angiography","volume":"37","author":"Chua","year":"2019","journal-title":"J Hypertens."},{"key":"B43","doi-asserted-by":"publisher","first-page":"156","DOI":"10.1038\/s41598-018-36474-1","article-title":"Retinal microvascular change in hypertension as measured by optical coherence tomography angiography","volume":"9","author":"Lee","year":"2019","journal-title":"Sci Rep."},{"key":"B44","doi-asserted-by":"publisher","first-page":"6541","DOI":"10.1038\/s41598-020-63603-6","article-title":"Peripapillary microvascular changes in patients with systemic hypertension: An optical coherence tomography angiography study","volume":"10","author":"Shin","year":"2020","journal-title":"Sci Rep."},{"key":"B45","doi-asserted-by":"publisher","first-page":"103969","DOI":"10.1016\/j.mvr.2019.103969","article-title":"Use of optical coherence tomography angiography for assessment of microvascular changes in the macula and optic nerve head in hypertensive patients without hypertensive retinopathy","volume":"129","author":"Hua","year":"2020","journal-title":"Microvasc Res."}],"container-title":["Frontiers in Neurology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fneur.2021.640719\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,3,29]],"date-time":"2021-03-29T11:40:37Z","timestamp":1617018037000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fneur.2021.640719\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3,9]]},"references-count":45,"alternative-id":["10.3389\/fneur.2021.640719"],"URL":"https:\/\/doi.org\/10.3389\/fneur.2021.640719","relation":{},"ISSN":["1664-2295"],"issn-type":[{"value":"1664-2295","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,3,9]]},"article-number":"640719"}}