Observational studyJapanese journal of ophthalmology2025
Remarkable visual improvement in Leber hereditary optic neuropathy.
Observational study in Japanese journal of ophthalmology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed.
- Technological advances in the diagnosis and management of inherited optic neuropathies.Frontiers in neurology · 2025Review
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Authors and funding
7 authors.
Funding
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Abstract
purposeLeber hereditary optic neuropathy (LHON) typically has a poor visual outcome. In this study, we examined 8 cases of LHON that demonstrated remarkable visual improvement. STUDY
designRetrospective observational study, clinical case series
methodsWe analyzed the clinical histories and outcomes of 8 patients (16 eyes) whose best corrected visual acuity (BCVA) improved to 0.7 or higher in at least 1 eye.
resultsThe median age of onset of the 7 male patients and 1 female patient was 17 years (range 8-58). Genetic testing revealed m.11778G>A mutations in 6 and m.14484T>C mutations in 2 of the patients. Of the 16 eyes, 15 improved to a BCVA of 0.7 or higher, whilst 1 eye achieved a final BCVA of 0.5. The lowest BCVA was below 0.1 in 12/16 eyes. BCVA improved to 0.1 or better within 1 year in 6/12 eyes and to 0.7 or better within 2 years in 12/15 eyes. In 10 eyes monitored by use of Humphrey Field Analysis (HFA; Fastpac, 30-2 program), the mean deviation improved from - 13.2 dB (- 23.6 to - 4.54) at its lowest to - 5.0 dB (- 15.6 to - 0.9) at the final measurement. Final HFA showed residual defects in the temporal region in 7/16 eyes. In the chronic phase, 10/12 eyes displayed either normal optic disc findings or partial temporal pallor.
conclusionIn LHON cases with remarkable visual improvement, the recovery began earlier, and the visual field defects were relatively mild and tended to persist in the temporal region after improvement. Understanding these cases of notable improvement may inform future treatment strategies.
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