Interpreting relative afferent pupillary defect in Leber hereditary optic neuropathy using interocular…

Cohort studyOphthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde· Jun 2026

Interpreting relative afferent pupillary defect in Leber hereditary optic neuropathy using interocular visual acuity difference.

Yasuyuki Takai, Akiko Yamagami, Kenji Inoue … Hitoshi Ishikawa

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Neuro-ophthalmologyCohort studyDiagnosisQ2IF 2.3

Bigger vision difference is linked to relative afferent pupillary defect in Leber hereditary optic neuropathy

Interpreting relative afferent pupillary defect in Leber hereditary optic neuropathy using interocular visual acuity difference.

Yasuyuki Takai … Hitoshi Ishikawa

Ophthalmologica · Jun 2026 · Q2 in Ophthalmology

Purpose

To clarify how relative afferent pupillary defect (relative afferent pupillary defect) relates to interocular visual acuity asymmetry in Leber hereditary optic neuropathy (leber hereditary optic neuropathy), and to derive clinically interpretable thresholds of absolute interocular best-corrected visual acuity difference (|ΔBCVA|) for relative afferent pupillary defect interpretation.

Methods

This retrospective study included patients with genetically confirmed leber hereditary optic neuropathy (one of the three primary mitochondrial DNA mutations: m.11778G>A, m.14484T>C, or m.3460G>A) who presented within 6 months of symptom onset and underwent relative afferent pupillary defect assessment at the initial visit.

Results

larger gap in eye vision between eyes raised odds of abnormal pupil light response

aOR 1.20 (95% CI 1.08 to 1.35)

null 1

1.08

1.35

CI excludes the null - significant

More results

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%).

More results

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

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Conclusion · 1 of 2

In leber hereditary optic neuropathy, relative afferent pupillary defect is largely driven by interocular acuity asymmetry.

Conclusion · 2 of 2

Quantitative |ΔBCVA| thresholds can support interpretation of relative afferent pupillary defect without prematurely excluding leber hereditary optic neuropathy and may help plan diagnostic work-up and follow-up while confirmatory testing is pending.

Interpreting relative afferent pupillary defect in Leber hereditary optic neuropathy using interocular visual acuity difference.

Interpreting relative afferent pupillary defect in Leber hereditary optic neuropathy using interocular visual acuity difference.

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