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

Area of Science:

• Ophthalmology
• Neurology
• Genetics

Background:

• Adrenoleukodystrophy (ALD) is a rare genetic disorder affecting the nervous system and adrenal glands.
• Visual impairment is a common manifestation of ALD, necessitating sensitive diagnostic tools.

Purpose of the Study:

• To evaluate visual function and retinal morphology in ALD patients using advanced imaging and electrophysiological techniques.
• To establish comprehensive data for improved diagnosis, monitoring, and treatment assessment in ALD.

Main Methods:

• Sweep-source optical coherence tomography (SS-OCT) assessed retinal nerve fiber layer (RNFL) and ganglion cell-inner plexiform layer (GCIPL) thickness.
• Patterned visual evoked potentials (PVEP) measured the P100 wave's peak time and amplitude.
• Statistical analysis included logistic regression and ROC curves for predictive performance evaluation.

Main Results:

• ALD patients exhibited a significant increase in PVEP P100 wave peak time compared to controls.
• Substantial decreases in RNFL and GCIPL thickness were observed in ALD patients, particularly in specific retinal quadrants.
• The combined model demonstrated high diagnostic accuracy (AUC=0.883, sensitivity=0.95).

Conclusions:

• ALD is associated with characteristic abnormalities in retinal structure and delayed PVEP responses.
• Integrating SS-OCT and PVEP findings offers a promising approach for early and accurate ALD diagnosis.