Age-Associated Differences in Optic Disc Findings of Leber's Hereditary Optic Neuropathy

We aimed to investigate the relationship between age and acute-phase optic disc findings in Leber's Hereditary Optic Neuropathy (LHON). We examined 27 LHON patients (27 eyes) with the m.11778 G>A mutation within two months of onset, with acute-phase optic disc findings. We analyzed the relationship between age and three key optic disc features: peripapillary telangiectasia, disc hyperemia, and retinal nerve fiber layer (RNFL) swelling. The median age of onset was 37 years (range: 10-68), with 22 males and five females. Peripapillary telangiectasia was observed in 23 eyes (85.2%), disc hyperemia in 21 eyes (77.8%), and RNFL swelling in 16 eyes (53.9%). Patients without RNFL swelling were significantly older than those with RNFL swelling (median age 54 vs. 24.5 years, p = .003; Mann-Whitney U test). RNFL swelling was less common in patients aged 50 and above (20.0% vs. 82.4% in those under 50; odds ratio 0.06; 95% CI 0.04-0.51, p = .003; Fisher's exact test). Age at onset was not significantly associated with peripapillary telangiectasia or disc hyperemia. Among acute-phase optic disc findings in LHON, RNFL swelling was less common in older patients. Clinicians should know that atypical optic disc presentations may occur in older LHON patients.