ArticleTranslational pediatrics2025
Comparison of thickness changes in retinal nerve fibre layer in Leber's hereditary optic neuropathy patients with 11778, 14484 and 3460 mutations.
Article in Translational pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: There was limited research comparing retinal nerve fibre layer (RNFL) involvement among different mitochondrial DNA (mtDNA) mutations associated with varying visual prognoses. This study aimed to observe and compare the thickness changes of RNFL among Leber's hereditary optic neuropathy (LHON) patients with G11778A, T14484C and G3460A mtDNA mutations. Methods: A retrospective cross-sectional analysis was conducted on LHON patients with G11778A (189 eyes of 121 patients), T14484C (20 eyes of 10 patients), or G3460A (28 eyes of 15 patients) mutations, enrolled between July 2017 and December 2020. We also recruited age-matched healthy individuals as the healthy control group. Patients were grouped based on their mutation type and disease duration (<6, 6-12, and >12 months). RNFL thickness measurements were obtained for all quadrants and compared among the three mutation groups. Results: During the subacute phase, the temporal quadrant RNFL thickness in LHON patients with G11778A, T14484C, or G3460A mutations was significantly reduced compared to healthy controls. In the dynamic phase, the RNFL thickness in all quadrants of G11778A or G3460A LHON patients was significantly thinned, except for the nasal quadrant in LHON patients with G3460A mtDNA mutation (P=0.29). As the disease progressed, RNFL thickness in all quadrants and average RNFL thickness were significantly thinner in all three mutation groups relative to controls, except for the nasal quadrant in T14484C mutation patients (P=0.10). Furthermore, during both the subacute and dynamic phases, RNFL thickness in all quadrants was thinner in G11778A and G3460A mutation patients compared to T14484C mutation patients. Conclusions: The papillomacular bundle was the initial and preferential site of involvement in LHON patients across all mutation types. The pattern of RNFL involvement was similar among the three mutations: temporal quadrant thinning occurred first, followed by the inferior and superior quadrants, and finally the nasal quadrant. Patients with G11778A and G3460A mutations exhibited earlier and more pronounced RNFL atrophy compared to those with T14484C mutations.
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