{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T16:05:42Z","timestamp":1791993942567,"version":"4.4.0"},"reference-count":99,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2023,5,27]],"date-time":"2023-05-27T00:00:00Z","timestamp":1685145600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JPM"],"abstract":"<jats:p>Fabry disease (FD) is an X-linked lysosomal storage disorder, causing Gb-3 (globotriaosylceramide) buildup in cellular lysosomes throughout the body, in particular in blood vessel walls, neuronal cells, and smooth muscle. The gradual accumulation of this glycosphingolipid in numerous eye tissues causes conjunctival vascular abnormalities, corneal epithelial opacities (cornea verticillata), lens opacities, and retinal vascular abnormalities. Although a severe vision impairment is rare, these abnormalities are diagnostic indicators and prognostics for severity. Cornea verticillata is the most common ophthalmic feature in both hemizygous men and heterozygous females. Vessel tortuosity has been linked to a faster disease progression and may be useful in predicting systemic involvement. New technologies such as optical coherence tomography angiography (OCTA) are useful for monitoring retinal microvasculature alterations in FD patients. Along with OCTA, corneal topographic analysis, confocal microscopy, and electro-functional examinations, contributed to the recognition of ocular abnormalities and have been correlated with systemic involvement. We offer an update regarding FD ocular manifestations, focusing on findings derived from the most recent imaging modalities, to optimize the management of this pathology.<\/jats:p>","DOI":"10.3390\/jpm13060904","type":"journal-article","created":{"date-parts":[[2023,5,27]],"date-time":"2023-05-27T16:19:37Z","timestamp":1685204377000},"page":"904","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Ophthalmic Manifestations in Fabry Disease: Updated Review"],"prefix":"10.3390","volume":"13","author":[{"given":"Gloria","family":"Gambini","sequence":"first","affiliation":[{"name":"Ophthalmology Department, Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168 Rome, Italy"},{"name":"Ophthalmology Department, Catholic University \u201cSacro Cuore\u201d, 20123 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Scartozzi","sequence":"additional","affiliation":[{"name":"Ophthalmology Department, Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168 Rome, Italy"},{"name":"Ophthalmology Department, Catholic University \u201cSacro Cuore\u201d, 20123 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico","family":"Giannuzzi","sequence":"additional","affiliation":[{"name":"Ophthalmology Department, Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168 Rome, Italy"},{"name":"Ophthalmology Department, Catholic University \u201cSacro Cuore\u201d, 20123 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2979-1638","authenticated-orcid":false,"given":"Matteo Mario","family":"Carl\u00e0","sequence":"additional","affiliation":[{"name":"Ophthalmology Department, Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168 Rome, Italy"},{"name":"Ophthalmology Department, Catholic University \u201cSacro Cuore\u201d, 20123 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Boselli","sequence":"additional","affiliation":[{"name":"Ophthalmology Department, Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168 Rome, Italy"},{"name":"Ophthalmology Department, Catholic University \u201cSacro Cuore\u201d, 20123 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6902-2983","authenticated-orcid":false,"given":"Tomaso","family":"Caporossi","sequence":"additional","affiliation":[{"name":"Ophthalmology Department, Catholic University \u201cSacro Cuore\u201d, 20123 Rome, Italy"},{"name":"Vitreoretinal Surgery Unit, Fatebenefratelli Isola Tiberina-Gemelli Isola Hospital, 00186 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Umberto","family":"De Vico","sequence":"additional","affiliation":[{"name":"Ophthalmology Department, Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168 Rome, Italy"},{"name":"Ophthalmology Department, Catholic University \u201cSacro Cuore\u201d, 20123 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Baldascino","sequence":"additional","affiliation":[{"name":"Ophthalmology Department, Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168 Rome, Italy"},{"name":"Ophthalmology Department, Catholic University \u201cSacro Cuore\u201d, 20123 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stanislao","family":"Rizzo","sequence":"additional","affiliation":[{"name":"Ophthalmology Department, Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168 Rome, Italy"},{"name":"Ophthalmology Department, Catholic University \u201cSacro Cuore\u201d, 20123 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,5,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1136\/jmg.38.11.750","article-title":"Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 98 hemizygous males","volume":"38","author":"MacDermot","year":"2001","journal-title":"J. Med. Genet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1136\/bjo.2006.100602","article-title":"Ocular manifestations of Fabry\u2019s disease: Data from the Fabry Outcome Survey","volume":"91","author":"Sodi","year":"2007","journal-title":"Br. J. Ophthalmol."},{"key":"ref_3","doi-asserted-by":"crossref","unstructured":"Pitz, S., Kalkum, G., Arash, L., Karabul, N., Sodi, A., Larroque, S., Beck, M., and Gal, A. 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