Abstract
BACKGROUND: Autosomal Dominant Optic Atrophy (ADOA) is a hereditary condition caused by mutations in the OPA1 gene, leading to progressive degeneration of the optic nerve fibres and subsequent visual decline. Despite advances in understanding its genetic and clinical aspects, the impact of ADOA on vision-related quality of life (VRQoL) remains poorly characterized. SUBJECTS/METHODS: This cross-sectional study aimed to evaluate VRQoL in 27 patients with molecularly confirmed ADOA using the 25-item National Eye Institute Visual Function Questionnaire (NEI-VFQ-25) and its 10-item Neuro-Ophthalmic Supplement. Clinical and structural parameters, including visual acuity, colour vision, macular volume, and ganglion cell complex thickness, were assessed to explore their association with VRQoL scores. RESULTS: Significant reduction in VRQoL, with mean composite scores of 74.1 (NEI-VFQ-25) and 69.9 (neuro-ophthalmic supplement) was observed. General vision, near activities, and distance activities were the most affected domains, while colour vision surprisingly scored higher than expected. Multivariate analysis revealed that best-corrected visual acuity (BCVA) to be independently associated with VFQ-25 composite (ß coefficient -66.46; p < 0.001), VFQ-25 neuroophthalmology (ß coefficient -57.13; p < 0.001) and 4 of the 12 subscales. Additionally, macular vessel density correlated with specific subscales such as dependency and colour vision. CONCLUSIONS: These findings highlight the significant functional burden of ADOA on patients and underscore the importance of clinical parameters such as BCVA and peripapillary retinal nerve fibre layer in assessing the quality of life. The study suggests that preserving visual acuity should be a primary therapeutic target in ADOA management, as well as a key for monitoring and guiding future therapeutic interventions.