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Purpose <p>To describe branch retinal vein occlusion (BRVO) observed in patients with Leber hereditary optic neuropathy (LHON) with onset at age ≥50 years and to explore whether BRVO prevalence may be higher than age- and sex-matched general population estimates.</p> Study design <p>Retrospective observational study.</p> Methods <p>We reviewed 187 genetically confirmed LHON patients seen at a single center (1990–2024) and analyzed 39 patients with LHON onset at age ≥50 years. We summarized fundus findings, management, and longitudinal visual function. We also performed indirect standardization using age- and sex-specific BRVO point prevalence from the Hisayama Study to calculate the standardized prevalence ratio (SPR) for BRVO diagnosed before LHON onset; a sensitivity analysis used an ever-BRVO definition that also included post-onset cases.</p> Results <p>Four patients had BRVO. Three cases were diagnosed before LHON onset (SPR 3.88; 95% CI 0.80–11.34), and inclusion of one post-onset case increased the SPR to 5.17 (95% CI 1.41–13.25). Macular atrophy was present in two patients. All patients underwent laser photocoagulation and none received intravitreal anti-vascular endothelial growth factor (VEGF) therapy. Longitudinal visual function generally showed persistent central visual field loss consistent with LHON, with some BRVO-affected eyes demonstrating additional nasal or inferonasal components at follow-up.</p> Conclusion <p>In this older-onset LHON cohort, BRVO was observed in four patients and detailed case-level characteristics are presented. The indirect standardized comparison suggests a tendency toward higher standardized BRVO prevalence; however, this prevalence-based analysis is not adjusted for vascular risk profiles and should be interpreted as hypothesis-generating.</p>

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Branch retinal vein occlusion in Leber hereditary optic neuropathy with onset at age 50 years or older: frequency and clinical characteristics

  • 期刊论文

  • 发表日期：

    2026年4月22日

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  • Yasuyuki Takai,
  • Akiko Yamagami,
  • Kenji Inoue,
  • Hitoshi Ishikawa,
  • Masato Wakakura

摘要

Purpose

To describe branch retinal vein occlusion (BRVO) observed in patients with Leber hereditary optic neuropathy (LHON) with onset at age ≥50 years and to explore whether BRVO prevalence may be higher than age- and sex-matched general population estimates.

Study design

Retrospective observational study.

Methods

We reviewed 187 genetically confirmed LHON patients seen at a single center (1990–2024) and analyzed 39 patients with LHON onset at age ≥50 years. We summarized fundus findings, management, and longitudinal visual function. We also performed indirect standardization using age- and sex-specific BRVO point prevalence from the Hisayama Study to calculate the standardized prevalence ratio (SPR) for BRVO diagnosed before LHON onset; a sensitivity analysis used an ever-BRVO definition that also included post-onset cases.

Results

Four patients had BRVO. Three cases were diagnosed before LHON onset (SPR 3.88; 95% CI 0.80–11.34), and inclusion of one post-onset case increased the SPR to 5.17 (95% CI 1.41–13.25). Macular atrophy was present in two patients. All patients underwent laser photocoagulation and none received intravitreal anti-vascular endothelial growth factor (VEGF) therapy. Longitudinal visual function generally showed persistent central visual field loss consistent with LHON, with some BRVO-affected eyes demonstrating additional nasal or inferonasal components at follow-up.

Conclusion

In this older-onset LHON cohort, BRVO was observed in four patients and detailed case-level characteristics are presented. The indirect standardized comparison suggests a tendency toward higher standardized BRVO prevalence; however, this prevalence-based analysis is not adjusted for vascular risk profiles and should be interpreted as hypothesis-generating.