Akiko Yamagami - research works

ROC analysis showed good discrimination (AUC 0.791, 95%CI 0.672-0.910).

The Youden-optimal cutoff was 0.88 logMAR (sensitivity 56.5%, specificity 92.8%); additional thresholds were 0.47 logMAR for higher sensitivity (87.0%, 58.0%) and 1.14 logMAR for higher specificity (52.2%, 97.1%).

In Kaplan-Meier analysis, fellow-eye involvement occurred earlier in RAPD-negative than RAPD-positive cases (log-rank p=0.020), with an estimated median time to involvement of 2 months and 4 months, respectively.

LHON showed significantly thinner GCIPL than ON in the superonasal (adjusted mean difference -12.1 μm) and inferonasal (-12.4 μm) sectors in the acute phase (FDR-adjusted q = 0.02 and 0.01, respectively).

The nasal GCIPL difference was evident versus DN-ON and MOG-ON, whereas separation from AQP4-ON was less apparent.

Although several natural-history studies have reported visual outcomes, long-term trajectories beyond 5 years remain incompletely quantified, particularly in Asian cohorts.

Kaplan-Meier analyses estimated time to achieving BCVA ≤1.6 and ≤1.3 logMAR.

During the Chronic phase, BCVA showed a small but statistically significant improvement (overall -0.030 logMAR/year, 95% confidence interval (CI) -0.045 to -0.015; -0.025 logMAR/year, 95% CI -0.044 to -0.007 in a pre-specified m.11778G > A subgroup).

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.

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.