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, <i>p</i> = .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, <i>p</i> = .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.

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Publication Details

Journal
Neuro-Ophthalmology
Published
2025-05-09
DOI
https://doi.org/10.1080/01658107.2025.2501053
Citations
1
Primary Topic
Mitochondrial Function and Pathology
Type
article
Field-Weighted Citation Impact
0.81
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article

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

Hitoshi Ishikawa, Mayumi Iwasa, Akiko Yamagami, Masato Wakakura et al.
1 citations
Neuro-Ophthalmology
Mitochondrial Function and Pathology
0.81
article

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

Hitoshi Ishikawa, Mayumi Iwasa, Akiko Yamagami, Masato Wakakura, Yasuyuki Takai, Ryoma Yasumoto, Kenji Inoue
article en
1 citations

Abstract

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, <i>p</i> = .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, <i>p</i> = .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.

Neuro-OphthalmologyVol. 49(5)
Inouye Eye Hospital (JP)
Openalex Percentile: Top 28%
Mitochondrial Function and Pathology
0.81
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