Clinical and Structural Parameters in Autosomal Dominant Optic Atrophy Patients: A Cross-Sectional Study Using Optical Coherence Tomography

Abstract

Background: Autosomal Dominant Optic Atrophy (ADOA) is a hereditary optic neuropathy characterized by retinal ganglion cell degeneration and optic nerve fiber loss. This study examined the correlation between clinical and structural parameters in patients with ADOA using optical coherence tomography (OCT) and explored potential clinical biomarkers. Methods: A cross-sectional, case–control observational study included 27 patients with ADOA and 27 age- and sex-matched healthy controls. Clinical examinations, OCT imaging, and OCT angiography (OCTA) were performed. Statistical analyses were conducted to establish correlations between clinical and OCT parameters. Results: Patients with ADOA exhibited gradual bilateral vision loss, central scotomas, and optic disc pallor. Structural OCT analysis revealed significant reductions in central macular thickness, macular volume, ganglion cell complex (GCC), and peripapillary retinal nerve fiber layer compared with controls. Correlation analysis demonstrated associations between worsening clinical parameters (best corrected visual acuity, Sloan Letters Low Contrast Chart 25%, Pseudoisochromatic Test) and increased OCT damage (structural and OCTA). GCC emerged, at least at exploratory terms, as the most important clinical biomarker in patients with ADOA given its multiple positive functional associations, while OCTA parameters correlated with visual field defects. Conclusions: Our study revealed significant correlations between clinical and structural parameters in patients with ADOA, highlighting the importance of OCT in assessing disease severity. GCC measurement shows promise as a clinical biomarker, aiding in disease monitoring. OCTA parameters offer potential early biomarkers for vascular changes. These findings contribute to understanding ADOA pathophysiology and may improve patient diagnosis and management. Further research is warranted to validate these findings and explore potential therapeutic interventions.