Can J Ophthalmol. 2026 Mar 12:S0008-4182(26)00079-7. doi: 10.1016/j.jcjo.2026.02.011. Online ahead of print.
ABSTRACT
OBJECTIVE: To compare 5-year visual acuity trajectories in Leber hereditary optic neuropathy (LHON) by age at onset.
DESIGN: A retrospective single-center cohort study.
PARTICIPANTS: Fifty-seven patients (114 eyes) with genetically confirmed, bilateral-onset LHON.
METHODS: Serial best-corrected visual acuity (BCVA, logMAR) over 5 years was extracted from medical records. The age at onset was grouped as ≤19, 20-49, or ≥50 years. Sex and primary mutation (m.11778G>A vs m.14484T>C) were also assessed. Longitudinal trajectories were analyzed using linear mixed-effects models. Between-group differences were summarized using ΔlogMAR curves, area under the Δ curve (AUCΔ), and model-based probabilities of achieving logMAR ≤1.0.
RESULTS: The median age at onset was 30.0 years (range: 8-69): 15 patients (26%) were ≤19 years old, 31 (54%) were 20-49 years old, and 11 (19%) were ≥50 years old. Relative to the 20-49-year reference group, the ≤19-year group had better visual outcomes over 5 years, with a negative AUCΔ and higher probabilities of achieving logMAR ≤1.0 (70.2% vs 13.6% at 60 months). The ≥50-year group showed poorer vision over time, with a positive AUCΔ and low probabilities of recovery. Differences by sex were small. Eyes with m.14484T>C had more favourable Δ trajectories than those with m.11778G>A, although the estimates were imprecise.
CONCLUSIONS: In this cohort, onset at ≤19 years was associated with earlier and greater visual recovery, whereas onset at ≥50 years was associated with persistently worse vision. Age at onset is an important modifier of 5-year visual prognosis in bilaterally affected LHON.
PMID:41833325 | DOI:10.1016/j.jcjo.2026.02.011