scholarly journals Linezolid-induced optic neuropathy: a mitochondrial disorder?

2006 ◽  
Vol 91 (1) ◽  
pp. 111-115 ◽  
Author(s):  
M Javaheri ◽  
R N Khurana ◽  
T M O'Hearn ◽  
M M Lai ◽  
A A Sadun
Keyword(s):  
Optic Neuropathy ◽  
Mitochondrial Disorder

scholarly journals Antiretroviral therapy-induced Leber’s hereditary optic neuropathy

2014 ◽  
Vol 15 (2) ◽  
pp. 69-71 ◽  
Author(s):  
Anand Moodley ◽  
Sudika Bhola ◽  
Fierdoz Omar ◽  
Jade Mogambery
Keyword(s):  
Antiretroviral Therapy ◽  
Optic Neuropathy ◽  
Visual Loss ◽  
Opportunistic Infections ◽  
Genetic Disorders ◽  
Mitochondrial Disorder ◽  
Phenotypic Expression ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
Hereditary Optic Neuropathy

Optic neuropathy in HIV-infected patients results from the HIV infection itself, post-infectious auto-immune disease, opportunistic infections and drugs. Nucleoside reverse transcriptase inhibitors (NRTIs) such as zidovudine and stavudine have known mitochondrial toxicity and can cause mitochondrial myopathies, neuropathies, hyperlactataemia, and can induce mitochondrial genetic disorders. Individuals with the mutation for Leber’s hereditary optic neuropathy (LHON), a mitochondrial disorder, are usually asymptomatic but develop visual loss when exposed to external triggers such as smoking. We report on two HIV-infected patients with LHON mutations (m.14484T>C and m.11778G>A) who developed profound visual loss with antiretroviral therapy. We postulate that the phenotypic expression of LHON in these genetically predisposed individuals was triggered by NRTI drugs lamivudine and tenofovir when used in combination, despite their relatively weak mitochondrial toxic effects. 

scholarly journals Mitochondrial Genetic Heterogeneity in Leber’s Hereditary Optic Neuropathy: Original Study with Meta-Analysis

Genes ◽  
2021 ◽  
Vol 12 (9) ◽  
pp. 1300
Author(s):  
Rajan Kumar Jha ◽  
Chhavi Dawar ◽  
Qurratulain Hasan ◽  
Akhilesh Pujar ◽  
Gaurav Gupta ◽  
...  
Keyword(s):  
Optic Neuropathy ◽  
Meta Analysis ◽  
Mitochondrial Disorder ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
Central Vision ◽  
Pathogenic Variants ◽  
Secondary Variants ◽  
Hereditary Optic Neuropathy ◽  
Complete Mtdna

Leber’s hereditary optic neuropathy (LHON) is a mitochondrial disorder that causes loss of central vision. Three primary variants (m.3460G>A, m.11778G>A, and m.14484T>C) and about 16 secondary variants are responsible for LHON in the majority of the cases. We investigated the complete mitochondrial DNA (mtDNA) sequences of 189 LHON patients and found a total of 54 disease-linked pathogenic variants. The primary variants m.11778G>A and m.14484T>C were accountable for only 14.81% and 2.64% cases, respectively. Patients with these two variants also possessed additional disease-associated variants. Among 156 patients who lacked the three primary variants, 16.02% harboured other LHON-associated variants either alone or in combination with other disease-associated variants. Furthermore, we observed that none of the haplogroups were explicitly associated with LHON. We performed a meta-analysis of m.4216T>C and m.13708G>A and found a significant association of these two variants with the LHON phenotype. Based on this study, we recommend the use of complete mtDNA sequencing to diagnose LHON, as we found disease-associated variants throughout the mitochondrial genome.

scholarly journals Leber's hereditary optic neuropathy plus, case report

2020 ◽  
pp. 101-102
Author(s):  
Д.Г. Короткова ◽  
М.И. Карпова ◽  
Г.В. Буянова ◽  
Т.Н. Кашко
Keyword(s):  
Case Report ◽  
Optic Nerve ◽  
Optic Neuropathy ◽  
Clinical Case ◽  
Mitochondrial Disorder ◽  
Neurological Symptoms ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
Optic Nerve Atrophy ◽  
Hereditary Optic Neuropathy

Наследственная оптическая невропатия Лебера (LHON) - митохондриальное заболевание с атрофией зрительного нерва. Хотя в большинстве случаев LHON других ассоциированных неврологических отклонений нет, сообщалось о случаях LHON plus. В статье представлен анализ клинического случая с проявлением неврологических симптомов в подростковом возрасте. Leber’s hereditary optic neuropathy (LHON) is a mitochondrial disorder with optic nerve atrophy. Although there are no other associated neurological abnormalities in most cases of LHON, cases of “LHON plus” have been reported. The article presents an analysis of clinical case with the manifestation of neurological symptoms in adolescence.

scholarly journals Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Marie-Christine Reinert ◽  
David Pacheu-Grau ◽  
Claudia B. Catarino ◽  
Thomas Klopstock ◽  
Andreas Ohlenbusch ◽  
...  
Keyword(s):  
Carbonic Anhydrase ◽  
Optic Neuropathy ◽  
Visual Loss ◽  
Focal Epilepsy ◽  
Mitochondrial Disorder ◽  
Vehicle Control ◽  
Leber Hereditary Optic Neuropathy ◽  
Mutation Carriers ◽  
Hereditary Optic Neuropathy

Abstract Background Leber hereditary optic neuropathy (LHON) is the most common mitochondrial disorder and characterized by acute or subacute painless visual loss. Environmental factors reported to trigger visual loss in LHON mutation carriers include smoking, heavy intake of alcohol, raised intraocular pressure, and some drugs, including several carbonic anhydrase inhibitors. The antiepileptic drug sulthiame (STM) is effective especially in focal seizures, particularly in benign epilepsy of childhood with centrotemporal spikes, and widely used in pediatric epileptology. STM is a sulfonamide derivate and an inhibitor of mammalian carbonic anhydrase isoforms I–XIV. Results We describe two unrelated patients, an 8-year-old girl and an 11-year-old boy, with cryptogenic focal epilepsy, who suffered binocular (subject #1) or monocular (subject #2) visual loss in close temporal connection with starting antiepileptic pharmacotherapy with STM. In both subjects, visual loss was due to LHON. We used real-time respirometry in fibroblasts derived from LHON patients carrying the same mitochondrial mutations as our two subjects to investigate the effect of STM on oxidative phosphorylation. Oxygen consumption rate in fibroblasts from a healthy control was not impaired by STM compared with a vehicle control. In contrast, fibroblasts carrying the m.14484T>C or the m.3460G>A LHON mutation displayed a drastic reduction of the respiration rate when treated with STM compared to vehicle control. Conclusions Our observations point to a causal relationship between STM treatment and onset or worsening of visual failure in two subjects with LHON rather than pure coincidence. We conclude that antiepileptic medication with STM may pose a risk for visual loss in LHON mutation carriers and should be avoided in these patients.

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