Optical coherence tomography angiography reveals abnormal retinal vascular density and perfusion in patients with X-linked adrenoleukodystrophy: a cross-sectional study
Abstract Purpose X-linked adrenoleukodystrophy (XALD) can affect the eyes. 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....
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BMC
2025-01-01
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| Series: | Orphanet Journal of Rare Diseases |
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| Online Access: | https://doi.org/10.1186/s13023-024-03499-x |
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| author | Lujie Zhang Yongqiu Yu Ting Liu Chongyi Li Liang Tan Shuiqian Wen |
| author_facet | Lujie Zhang Yongqiu Yu Ting Liu Chongyi Li Liang Tan Shuiqian Wen |
| author_sort | Lujie Zhang |
| collection | DOAJ |
| description | Abstract Purpose X-linked adrenoleukodystrophy (XALD) can affect the eyes. 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. Methods 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. Results Compared with the controls, the symptomatic group had significantly lower vascular density in the superior nasal sector of the peripapillary SVC (MD − 4.940884; 95% CI − 9.655061 to − 0.226707; p = 0.036), lower vascular density (MD − 4.259225; 95% CI − 8.248627 to − 0.269823; p = 0.032) and lower perfusion area (MD − 0.180304; 95% CI − 0.337135 to − 0.023472; p = 0.018) 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 − 5.635483; 95% CI − 10.450009 to − 0.820957; p = 0.015) and perfusion area (MD − 0.063351; 95% CI − 0.116611 to − 0.010091; p = 0.013) in the superior nasal sector of the peripapillary SVC; lower vascular density (MD − 4.817846; 95% CI − 8.924294 to − 0.711399; p = 0.015) and perfusion area (MD − 0.202707; 95% CI − 0.369499 to − 0.035915; p = 0.011) in the peripheral ring superior quadrant of the macular SVC; and greater vascular density (MD 7.209401; 95% CI 0.818716–13.600086; p = 0.021) and perfusion area (MD 0.047320; 95% CI 0.001685–0.092956; p = 0.039) 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 = 0.001) and perfusion area (p = 0.002) in the peripheral ring superior quadrant of the macular SVC. Conclusion 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. |
| format | Article |
| id | doaj-art-1fcfedd3b77d4964ae725452861e3f7d |
| institution | Kabale University |
| issn | 1750-1172 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | BMC |
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| series | Orphanet Journal of Rare Diseases |
| spelling | doaj-art-1fcfedd3b77d4964ae725452861e3f7d2025-01-19T12:38:31ZengBMCOrphanet Journal of Rare Diseases1750-11722025-01-0120111510.1186/s13023-024-03499-xOptical coherence tomography angiography reveals abnormal retinal vascular density and perfusion in patients with X-linked adrenoleukodystrophy: a cross-sectional studyLujie Zhang0Yongqiu Yu1Ting Liu2Chongyi Li3Liang Tan4Shuiqian Wen5Department of Ophthalmology, Daping HospitalDepartment of Ophthalmology, Daping HospitalDepartment of Ophthalmology, Daping HospitalDepartment of Ophthalmology, Daping HospitalDepartment of Neurosurgery, Southwest HospitalDepartment of Ophthalmology, Daping HospitalAbstract Purpose X-linked adrenoleukodystrophy (XALD) can affect the eyes. 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. Methods 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. Results Compared with the controls, the symptomatic group had significantly lower vascular density in the superior nasal sector of the peripapillary SVC (MD − 4.940884; 95% CI − 9.655061 to − 0.226707; p = 0.036), lower vascular density (MD − 4.259225; 95% CI − 8.248627 to − 0.269823; p = 0.032) and lower perfusion area (MD − 0.180304; 95% CI − 0.337135 to − 0.023472; p = 0.018) 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 − 5.635483; 95% CI − 10.450009 to − 0.820957; p = 0.015) and perfusion area (MD − 0.063351; 95% CI − 0.116611 to − 0.010091; p = 0.013) in the superior nasal sector of the peripapillary SVC; lower vascular density (MD − 4.817846; 95% CI − 8.924294 to − 0.711399; p = 0.015) and perfusion area (MD − 0.202707; 95% CI − 0.369499 to − 0.035915; p = 0.011) in the peripheral ring superior quadrant of the macular SVC; and greater vascular density (MD 7.209401; 95% CI 0.818716–13.600086; p = 0.021) and perfusion area (MD 0.047320; 95% CI 0.001685–0.092956; p = 0.039) 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 = 0.001) and perfusion area (p = 0.002) in the peripheral ring superior quadrant of the macular SVC. Conclusion 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.https://doi.org/10.1186/s13023-024-03499-xX-linked adrenoleukodystrophyOptical coherence tomography angiographyRetinal vascularNeurodegeneration |
| spellingShingle | Lujie Zhang Yongqiu Yu Ting Liu Chongyi Li Liang Tan Shuiqian Wen Optical coherence tomography angiography reveals abnormal retinal vascular density and perfusion in patients with X-linked adrenoleukodystrophy: a cross-sectional study Orphanet Journal of Rare Diseases X-linked adrenoleukodystrophy Optical coherence tomography angiography Retinal vascular Neurodegeneration |
| title | Optical coherence tomography angiography reveals abnormal retinal vascular density and perfusion in patients with X-linked adrenoleukodystrophy: a cross-sectional study |
| title_full | Optical coherence tomography angiography reveals abnormal retinal vascular density and perfusion in patients with X-linked adrenoleukodystrophy: a cross-sectional study |
| title_fullStr | Optical coherence tomography angiography reveals abnormal retinal vascular density and perfusion in patients with X-linked adrenoleukodystrophy: a cross-sectional study |
| title_full_unstemmed | Optical coherence tomography angiography reveals abnormal retinal vascular density and perfusion in patients with X-linked adrenoleukodystrophy: a cross-sectional study |
| title_short | Optical coherence tomography angiography reveals abnormal retinal vascular density and perfusion in patients with X-linked adrenoleukodystrophy: a cross-sectional study |
| title_sort | optical coherence tomography angiography reveals abnormal retinal vascular density and perfusion in patients with x linked adrenoleukodystrophy a cross sectional study |
| topic | X-linked adrenoleukodystrophy Optical coherence tomography angiography Retinal vascular Neurodegeneration |
| url | https://doi.org/10.1186/s13023-024-03499-x |
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