Fig 1.
Patient selection for the 10-year longitudinal LHON cohort.
Of 174 genetically confirmed patients screened, 27 met the inclusion criteria (primary LHON mutation, presentation ≤6 months, and ≥10 years of follow-up). At the eye level, one eye that developed retinal vein occlusion during follow-up was excluded from BCVA analyses (final: 27 patients, 53 eyes).
Table 1.
Clinical characteristics and BCVA summary.
Table 2.
Representative values of BCVA.
Table 3.
Piecewise linear mixed-effects models (LMM) for BCVA: slopes by predefined phase.
Fig 2.
Ten-year trajectories of BCVA (logMAR) visualized with LOWESS (descriptive only).
A, overall cohort; B, predefined subgroup (≥15 years with the m.11778G > A mutation). Solid lines show LOWESS curves and shaded areas indicate 95% CIs. Vertical dashed lines mark 12 and 60 months (boundaries for Chronic and Late Chronic phases). This figure is descriptive; confirmatory inference is based on piecewise LMMs (Table 3). Lower logMAR indicates better vision.
Fig 3.
Time to attainment of visual acuity thresholds: Kaplan–Meier survival curves (proportion of non-achievement).
The curves show the proportion of the survival function: cumulative achievement = 1 − survival. The x-axis represents the number of months since the onset (0 = time of subjective awareness of vision loss). The eyes that met the threshold at baseline were excluded from the risk set. The shaded bands denote 95% confidence intervals. The groups included the overall cohort and subgroups (see Methods for definitions). (A) Time to best-corrected visual acuity (BCVA) ≤1.6 logMAR, overall cohort (n = 42 eyes). (B) Time to BCVA ≤1.6 logMAR, subgroup (n = 35 eyes). (C) Time to BCVA ≤1.3 logMAR, overall cohort (n = 49 eyes). (D) Time to BCVA ≤1.3 logMAR, subgroup (n = 39 eyes). Note: In all curves, the survival function did not drop below 0.5; therefore, the median time to attainment (50%) could not be calculated (not reached). Curves depict time to first attainment; eyes at threshold at baseline were excluded.