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.