Visual Outcomes and Optical Coherence Tomography Biomarkers of Vision Improvement in Patients With Leber Hereditary Optic Neuropathy Treated With Idebenone

PURPOSE: To assess the relationship of demographics, clinical characteristics and structural optical coherence tomography (OCT) findings to long-term visual outcomes in patients with Leber hereditary optic neuropathy (LHON) treated with idebenone.DESIGN: Retrospective, interventional, noncomparative clinical cohort study.METHODS: In this study, a total of 17 participants (34 eyes) with LHON treated with idebenone therapy within 1 year after disease onset and 2 years (24 months) of regular follow-ups were retrospectively enrolled. At baseline, structural OCT volume scans of the macula and optic nerve were reviewed to measure metrics reflecting neuronal loss (ie, macular ganglion cell and inner plexiform layer [GC-IPL] and peripapillary retinal nerve fiber layer [RNFL] thicknesses). Stepwise multiple regression analyses were computed to assess associations between final best-corrected visual acuity (BCVA) at 2 years and change in BCVA from baseline at 2 years as dependent variables with demographics, clinical characteristics, and OCT metrics at baseline (visit before the initiation of treatment).RESULTS: The BCVA was 1.6 +/- 0.8 logMAR (Snellen VA of similar to 20/800) at baseline (visit before the initiation of treatment) and 1.0 +/- 0.7 logMAR (Snellen VA of 20/200) at the 2-year follow-up visit (P <.0001). Mean +/- SD change in BCVA from baseline at 2 years was -51.9%+/- 35.9%. In multivariable analysis, the strongest associations with final BCVA were with baseline BCVA (P =.012), superior macular GC-IPL thickness (P =.044), superotemporal macular GC-IPL thickness (P =.010), and inferotemporal macular GC-IPL thickness (P =.015). Similarly, the strongest associations with delta BCVA were with superior macular GC-IPL thickness (P =.045), superotemporal macular GCIPL thickness (P =.047), and inferotemporal macular GC-IPL thickness (P =.030).CONCLUSION: We identified OCT biomarkers associated with long-term (ie, 2-year) visual outcomes in patients with LHON treated with idebenone therapy in the first year after disease onset. Thinning of the GC-IPL in the superior and temporal parafoveal regions was associated with worse long-term visual outcomes in these patients. (Am J Ophthalmol 2023;247: 35-41. (c) 2022 Elsevier Inc. All rights reserved.)