Evaluation of visual function and morphological changes in patients with adrenoleukodystrophy using SS-OCT and PVEP

This study aims to evaluate visual function and morphological changes in patients with adrenoleukodystrophy (ALD) through sweep-source optical coherence tomography (SS-OCT) and patterned visual evoked potentials (PVEP), with the goal of providing more accurate and comprehensive data for the diagnosis, monitoring, and assessment of treatment efficacy in patients with ALD.

This study included 46 ALD patients and 44 healthy controls. The thickness of the retinal nerve fiber layer (RNFL) around the optic disc, as well as the macular RNFL and ganglion cell-inner plexiform layer (GCIPL) thickness, was assessed using SS-OCT. The peak time and amplitude of the P100 wave were also measured using PVEP. Factors that were statistically significant in the univariate analysis were subjected to stepwise binary logistic regression analysis for further investigation. Predictive performance was evaluated by constructing receiver operating characteristic (ROC) curves and compared using DeLong's test.

Compared with the control patients, ALD patients presented a significant increase in the peak time of the P100 wave (P < 0.05); however, no notable difference in amplitude was observed (P > 0.05). Additionally, substantial decreases in the RNFL and GCIPL thicknesses were observed within the parafoveal ring, especially in the superior and nasal quadrants (P < 0.05). The area under the curve for the binary logistic stepwise regression model was 0.883, with a sensitivity of 0.95, which surpassed the performance of the individual parameters.

ALD patients present with abnormal retinal structures and a PVEP peak time delay. Combining these two parameters could increase the accuracy of an early ALD diagnosis.