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Background/objectives <p>Leber hereditary optic neuropathy (LHON) exhibits population-specific characteristics in Japan, but long-term temporal changes remain unclear.</p> Subjects/methods <p>We retrospectively analysed 179 patients with genetically confirmed LHON at Inoue Eye Hospital (1995–2024). Age at onset was evaluated using median (τ = 0.5) quantile regression, with temporal effects expressed per decade. Female proportion, m.11778 G &gt; A frequency, and—among adults ( ≥ 20 years)—smoking and alcohol use were assessed using logistic regression. Age-band distributions (10-year intervals) were compared between 1995–2012 and 2013–2024 using a χ² test.</p> Results <p>The median age at onset was 33 years (interquartile ranges, 18.5–48.0); 83.2% were male. Mutation frequencies were m.11778 G &gt; A, 88.8%; m.14484 T &gt; C, 9.5%; and m.3460 G &gt; A, 1.7%. Age at onset increased by 4.29 years per decade (95% confidence interval [CI], 0.16–8.41; p = 0.043). Temporal changes were not significant for female sex (odds ratio [OR]/decade, 1.39; 95% CI, 0.80–2.40; p = 0.24) or for m.11778 G &gt; A (OR/decade, 1.38; 95% CI, 0.74–2.56; p = 0.31). Among adults with available data, smoking showed a nonsignificant decrease and alcohol use a nonsignificant increase; however, these exploratory estimates were limited by missingness, retrospective exposure ascertainment, and complete-case analysis. After 2013, the age distribution shifted (p = 0.0436), with more patients aged 30–49 years, fewer aged 0–9 years, and emerging cases at 70–79 years.</p> Conclusions <p>Age at onset increased over time, whereas sex ratio and m.11778 G &gt; A predominance remained stable. Wider availability of genetic testing, together with improved recognition of optic neuropathy in routine practice, may have reduced under-recognition in older adults, partly explaining the upward shift in age at onset.</p>

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Clinical features and temporal trends in a large Japanese LHON cohort, 1995–2024: a retrospective study

  • 期刊论文

  • 发表日期：

    2026年5月20日

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  • Yasuyuki Takai,
  • Akiko Yamagami,
  • Mayumi Iwasa,
  • Kenji Inoue,
  • Ryoma Yasumoto,
  • Hitoshi Ishikawa,
  • Masato Wakakura

摘要

Background/objectives

Leber hereditary optic neuropathy (LHON) exhibits population-specific characteristics in Japan, but long-term temporal changes remain unclear.

Subjects/methods

We retrospectively analysed 179 patients with genetically confirmed LHON at Inoue Eye Hospital (1995–2024). Age at onset was evaluated using median (τ = 0.5) quantile regression, with temporal effects expressed per decade. Female proportion, m.11778 G > A frequency, and—among adults ( ≥ 20 years)—smoking and alcohol use were assessed using logistic regression. Age-band distributions (10-year intervals) were compared between 1995–2012 and 2013–2024 using a χ² test.

Results

The median age at onset was 33 years (interquartile ranges, 18.5–48.0); 83.2% were male. Mutation frequencies were m.11778 G > A, 88.8%; m.14484 T > C, 9.5%; and m.3460 G > A, 1.7%. Age at onset increased by 4.29 years per decade (95% confidence interval [CI], 0.16–8.41; p = 0.043). Temporal changes were not significant for female sex (odds ratio [OR]/decade, 1.39; 95% CI, 0.80–2.40; p = 0.24) or for m.11778 G > A (OR/decade, 1.38; 95% CI, 0.74–2.56; p = 0.31). Among adults with available data, smoking showed a nonsignificant decrease and alcohol use a nonsignificant increase; however, these exploratory estimates were limited by missingness, retrospective exposure ascertainment, and complete-case analysis. After 2013, the age distribution shifted (p = 0.0436), with more patients aged 30–49 years, fewer aged 0–9 years, and emerging cases at 70–79 years.

Conclusions

Age at onset increased over time, whereas sex ratio and m.11778 G > A predominance remained stable. Wider availability of genetic testing, together with improved recognition of optic neuropathy in routine practice, may have reduced under-recognition in older adults, partly explaining the upward shift in age at onset.