{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T01:30:38Z","timestamp":1790386238794,"version":"4.1.0"},"reference-count":39,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,10,5]],"date-time":"2021-10-05T00:00:00Z","timestamp":1633392000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Cell Dev. Biol."],"abstract":"<jats:p><jats:bold>Background:<\/jats:bold> Ethambutol-induced optic neuropathy (EON) is a well-recognized ocular complication in patients who take ethambutol as a tuberculosis treatment. The aim of the current study was to investigate the presence of mitochondrial mutations, including <jats:italic>OPA1<\/jats:italic> and Leber\u2019s hereditary optic neuropathy (LHON)-mitochondrial DNA (mtDNA), in patients with EON and to determine their effect on clinical features of these patients.<\/jats:p><jats:p><jats:bold>Methods:<\/jats:bold> All 47 patients underwent clinical evaluations, including best-corrected visual acuity, fundus examination, and color fundus photography; 37 patients were then followed up over time. Molecular screening methods, including PCR-based sequencing of the <jats:italic>OPA1<\/jats:italic> gene and LHON-mtDNA mutations, together with targeted exome sequencing, were used to detect mutations.<\/jats:p><jats:p><jats:bold>Results:<\/jats:bold> We detected 15 <jats:italic>OPA1<\/jats:italic> mutations in 18 patients and two LHON-mtDNA mutations in four patients, for an overall mutation detection rate of 46.8%. The mean presentation age was significantly younger in the patients with the mitochondrial mutations (27.5 years) than in those without mutations (48 years). Fundus examination revealed a greater prevalence of optic disc hyperemia in the patients with mutations (70.5%) than without mutations (48%). Half of the patients with mutations and 91% of the patients without mutations had improved vision. After adjusting for confounders, the logistic regression revealed that the patients with optic disc pallor on the first visit (<jats:italic>p<\/jats:italic> = 0.004) or the patients with the mitochondrial mutations (<jats:italic>p<\/jats:italic> &amp;lt; 0.001) had a poorer vision prognosis.<\/jats:p><jats:p><jats:bold>Conclusion:<\/jats:bold> Our results indicated that carriers with <jats:italic>OPA1<\/jats:italic> mutations might be more vulnerable for the toxicity of EMB to develop EON.<\/jats:p>","DOI":"10.3389\/fcell.2021.754676","type":"journal-article","created":{"date-parts":[[2021,10,5]],"date-time":"2021-10-05T13:23:01Z","timestamp":1633440181000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":11,"title":["Mitochondrial Mutations in Ethambutol-Induced Optic Neuropathy"],"prefix":"10.3389","volume":"9","author":[{"given":"Xiao-Hui","family":"Zhang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yue","family":"Xie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Quan-Gang","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kai","family":"Cao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ke","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zi-Bing","family":"Jin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yang","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shi-Hui","family":"Wei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2021,10,5]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1581","DOI":"10.1007\/s00417-007-0598-1","article-title":"A novel mutation of the OPA1 gene in a Japanese patient with autosomal dominant optic atrophy.","volume":"245","author":"Ban","year":"2007","journal-title":"Graefes Arch. 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