Incidence of mitochondrial mutations in cohort of patients with ethambutol-induced optic neuropathy

2021 ◽  
Vol 429 ◽  
pp. 118470
Author(s):  
Prabhjit Kaur ◽  
Aastha Takkar ◽  
S. Kathirvel ◽  
Biman Saikia ◽  
Ramandeep Singh ◽  
...  
Keyword(s):  
Optic Neuropathy ◽  
Mitochondrial Mutations

scholarly journals Mitochondrial Mutations in Ethambutol-Induced Optic Neuropathy

2021 ◽  
Vol 9 ◽  
Author(s):  
Xiao-Hui Zhang ◽  
Yue Xie ◽  
Quan-Gang Xu ◽  
Kai Cao ◽  
Ke Xu ◽  
...  
Keyword(s):  
Optic Disc ◽  
Optic Neuropathy ◽  
Fundus Photography ◽  
Screening Methods ◽  
Fundus Examination ◽  
Mitochondrial Mutations ◽  
Mtdna Mutations ◽  
Clinical Evaluations ◽  
Corrected Visual Acuity ◽  
The Mean

Background: 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 OPA1 and Leber’s hereditary optic neuropathy (LHON)-mitochondrial DNA (mtDNA), in patients with EON and to determine their effect on clinical features of these patients.Methods: 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 OPA1 gene and LHON-mtDNA mutations, together with targeted exome sequencing, were used to detect mutations.Results: We detected 15 OPA1 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 (p = 0.004) or the patients with the mitochondrial mutations (p < 0.001) had a poorer vision prognosis.Conclusion: Our results indicated that carriers with OPA1 mutations might be more vulnerable for the toxicity of EMB to develop EON.

Mitochondrial mutations of Leber's hereditary optic neuropathy: a risk factor for multiple sclerosis

2000 ◽  
Vol 247 (7) ◽  
pp. 535-543 ◽  
Author(s):  
Ludo Vanopdenbosch ◽  
Bénédicte Dubois ◽  
Marie-Béatrice D'Hooghe ◽  
Françoise Meire ◽  
Herwig Carton
Keyword(s):  
Multiple Sclerosis ◽  
Risk Factor ◽  
Optic Neuropathy ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
Mitochondrial Mutations ◽  
Hereditary Optic Neuropathy

scholarly journals Multilocus Mitochondrial Mutations Do Not Directly Affect the Efficacy of Gene Therapy for Leber Hereditary Optic Neuropathy

2020 ◽  
Vol 40 (1) ◽  
pp. 22-29 ◽  
Author(s):  
Shuo Yang ◽  
Chen Chen ◽  
Jia-Jia Yuan ◽  
Shuai-Shuai Wang ◽  
Xing Wan ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Optic Neuropathy ◽  
Mitochondrial Mutations ◽  
Leber Hereditary Optic Neuropathy ◽  
Hereditary Optic Neuropathy

Leber hereditary optic neuropathy: Usefulness of next generation sequencing to study mitochondrial mutations on apparent homoplasmy

2016 ◽  
Vol 146 (4) ◽  
pp. 163-166
Author(s):  
Pilar Carrasco Salas ◽  
Carmen Palma Milla ◽  
Javier López Montiel ◽  
Carmen Benito ◽  
Sara Franco Freire ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Optic Neuropathy ◽  
Next Generation ◽  
Mitochondrial Mutations ◽  
Leber Hereditary Optic Neuropathy ◽  
Generation Sequencing ◽  
Hereditary Optic Neuropathy
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