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Cohort studyCanadian journal of ophthalmology. Journal canadien d'ophtalmologie · 2026

Five-year post-onset visual acuity trajectories in Japanese Leber hereditary optic neuropathy: a longitudinal analysis by age, sex, and mtDNA mutation.

Yasuyuki Takai, Akiko Yamagami, Mayumi Iwasa … Masato Wakakura

OphthalmologyCohort study

Leber hereditary optic neuropathy onset at 19 or younger linked to far greater 5-year visual recovery

Five-year post-onset visual acuity trajectories in Japanese Leber hereditary optic neuropathy: a longitudinal analysis by age, sex, and mtDNA mutation.

Yasuyuki Takai … Masato Wakakura

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie · 2026

Purpose

To compare 5-year visual acuity trajectories in Leber hereditary optic neuropathy (leber hereditary optic neuropathy) by age at onset.

Methods

Fifty-seven patients (114 eyes) with genetically confirmed, bilateral-onset leber hereditary optic neuropathy.

n = 114 eyes

Results

more teens/young adults regained useful vision than mid-life adults

≤19 years

70.2%

20-49 years (reference

13.6%

More 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.

The ≥50-year group showed poorer vision over time, with a positive AUCΔ and low probabilities of recovery.

Differences by sex were small.

More results

Eyes with m.14484T>C had more favourable Δ trajectories than those with m.11778G>A, although the estimates were imprecise.

“

Conclusion · 1 of 2

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.

Conclusion · 2 of 2

Age at onset is an important modifier of 5-year visual prognosis in bilaterally affected leber hereditary optic neuropathy.

Post

Five-year post-onset visual acuity trajectories in Japanese Leber hereditary optic neuropathy: a longitudinal analysis by age, sex, and mtDNA mutation.

Leber hereditary optic neuropathy onset at 19 or younger linked to far greater 5-year visual recovery

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