Acute-phase characteristics of RNFL thickness in older patients with Leber hereditary optic neuropathy: a single-center retrospective OCT study.

PURPOSE: Older-onset Leber hereditary optic neuropathy (LHON) may present without obvious optic disc swelling, which can delay diagnosis. We explored whether acute-phase retinal nerve fiber layer (RNFL) thickening on optical coherence tomography is less prominent with increasing age in genetically confirmed LHON.

METHODS

We retrospectively reviewed patients with m.11778G > A LHON who underwent OCT within 90 days of symptom onset. Circumpapillary RNFL thickness was measured using ZEISS CIRRUS HD-OCT. Age-adjusted ΔRNFL was calculated as measured RNFL thickness minus age-expected thickness derived from same-device external East Asian normative datasets. Age was analyzed primarily as a continuous variable using median quantile regression adjusted for onset-to-OCT interval and spherical-equivalent refractive error. A supplementary comparison was performed between patients aged < 50 and ≥ 50 years.

RESULTS

Twenty-seven eyes from 27 patients were included. The median age was 35 years; 18 patients were aged < 50 years and 9 were aged ≥ 50 years. Increasing age was associated with smaller age-adjusted global RNFL thickening. The strongest sectoral association was observed in the superior quadrant. In the supplementary age-group analysis, the ≥ 50-year subgroup showed less prominent age-adjusted RNFL thickening than the < 50-year subgroup.

CONCLUSION

Acute-phase RNFL thickening may be less prominent with increasing age in m.11778G > A LHON, particularly in patients aged ≥ 50 years. LHON should not be excluded solely because RNFL thickening is inconspicuous in older-onset cases.