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Interpreting relative afferent pupillary defect in Leber hereditary optic neuropathy using interocular visual acuity
Summary
Relative afferent pupillary defect (RAPD) in Leber hereditary optic neuropathy (LHON) is linked to visual acuity differences between eyes. New |ΔBCVA| thresholds aid RAPD interpretation in LHON diagnosis.
Area of Science:
- Ophthalmology
- Neuro-ophthalmology
- Genetics
Background:
- Leber hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disease.
- Visual acuity asymmetry between eyes is common in LHON.
- Relative afferent pupillary defect (RAPD) is a key clinical sign in optic nerve dysfunction.
Purpose of the Study:
- To investigate the relationship between interocular visual acuity asymmetry and RAPD in LHON.
- To establish objective thresholds for the absolute interocular best-corrected visual acuity difference (|ΔBCVA|) to aid RAPD interpretation in LHON.
Main Methods:
- Retrospective analysis of genetically confirmed LHON patients presenting within 6 months of symptom onset.
- Assessment of RAPD and calculation of |ΔBCVA| (logMAR) at initial visit.
- Multivariable logistic regression and ROC analysis to determine |ΔBCVA| thresholds for RAPD prediction.
Main Results:
- |ΔBCVA| was significantly associated with RAPD in LHON patients (p<0.001).
- ROC analysis demonstrated good discrimination (AUC 0.791).
- Optimal |ΔBCVA| thresholds were identified for varying sensitivity and specificity, including 0.88 logMAR (Youden-optimal), 0.47 logMAR (high sensitivity), and 1.14 logMAR (high specificity).
Conclusions:
- RAPD in LHON is primarily driven by differences in visual acuity between the eyes.
- Quantitative |ΔBCVA| thresholds can assist in interpreting RAPD findings in LHON.
- These thresholds may help guide diagnostic work-up and follow-up for LHON patients.
