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Existing therapies are hampered by early quantitative examination methods. This study used an optical coherence tomography angiography system (OCTA) to investigate retinal microvascular density and perfusion in XALD patients.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>Fifty-two patients and 47 age-matched controls were included in this cross-sectional study. The patients were divided into three groups (symptomatic, less symptomatic, and controls). We compared the foveal avascular zone area, vascular density and perfusion area at the superficial vascular complex (SVC) and deep vascular complex (DVC) of the peripapillary and macular between the groups. We correlated these measurements with scale scores.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>Compared with the controls, the symptomatic group had significantly lower vascular density in the superior nasal sector of the peripapillary SVC (MD \u2212\u00a04.940884; 95% CI \u2212\u00a09.655061\u2009to\u2009\u2212\u00a00.226707; p\u2009=\u20090.036), lower vascular density (MD \u2212\u00a04.259225; 95% CI \u2212\u00a08.248627\u2009 to \u2009\u2212\u00a00.269823; p\u2009=\u20090.032) and lower perfusion area (MD \u2212\u00a00.180304; 95% CI \u2212\u00a00.337135\u2009 to \u2009\u2212\u00a00.023472; p\u2009=\u20090.018) in the peripheral ring superior quadrant of the macular SVC. Compared with the less symptomatic group, the symptomatic group exhibited a significantly lower vascular density (MD \u2212\u00a05.635483; 95% CI \u2212\u00a010.450009\u2009 to \u2009\u2212\u00a00.820957; p\u2009=\u20090.015) and perfusion area (MD \u2212\u00a00.063351; 95% CI \u2212\u00a00.116611\u2009 to \u2009\u2212\u00a00.010091; p\u2009=\u20090.013) in the superior nasal sector of the peripapillary SVC; lower vascular density (MD \u2212\u00a04.817846; 95% CI \u2212\u00a08.924294\u2009 to \u2009\u2212\u00a00.711399; p\u2009=\u20090.015) and perfusion area (MD \u2212\u00a00.202707; 95% CI \u2212\u00a00.369499\u2009 to \u2009\u2212\u00a00.035915; p\u2009=\u20090.011) in the peripheral ring superior quadrant of the macular SVC; and greater vascular density (MD 7.209401; 95% CI 0.818716\u201313.600086; p\u2009=\u20090.021) and perfusion area (MD 0.047320; 95% CI 0.001685\u20130.092956; p\u2009=\u20090.039) in the inferior nasal sector of the peripapillary DVC. Among the 52 patients, the expanded disability status score (EDSS) was moderately negatively correlated with the vascular density (p\u2009=\u20090.001) and perfusion area (p\u2009=\u20090.002) in the peripheral ring superior quadrant of the macular SVC.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>Changes in retinal vascular density and perfusion exist in XALD patients and are correlated with disease severity. OCTA has the potential to monitor the progression of XALD.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/s13023-024-03499-x","type":"journal-article","created":{"date-parts":[[2025,1,13]],"date-time":"2025-01-13T10:33:44Z","timestamp":1736764424000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Optical coherence tomography angiography reveals abnormal retinal vascular density and perfusion in patients with X-linked adrenoleukodystrophy: a cross-sectional study"],"prefix":"10.1186","volume":"20","author":[{"given":"Lujie","family":"Zhang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yongqiu","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8908-9483","authenticated-orcid":false,"given":"Ting","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chongyi","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liang","family":"Tan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuiqian","family":"Wen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,1,13]]},"reference":[{"key":"3499_CR1","doi-asserted-by":"publisher","first-page":"1293","DOI":"10.1093\/hmg\/ddi140","volume":"14","author":"M Asheuer","year":"2005","unstructured":"Asheuer M, Bieche I, Laurendeau I, Moser A, Hainque B, Vidaud M, Aubourg P. 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