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 Progress in Gene Therapy to Prevent Retinal Ganglion Cell Loss in Glaucoma and Leber’s Hereditary Optic Neuropathy

2018 ◽  
Vol 2018 ◽  
pp. 1-11 ◽  
Author(s):  
Sara E. Ratican ◽  
Andrew Osborne ◽  
Keith R. Martin
Keyword(s):  
Gene Therapy ◽  
Clinical Trials ◽  
Optic Nerve ◽  
Genome Editing ◽  
Optic Neuropathy ◽  
Single Gene ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
Potential Use ◽  
Hereditary Optic Neuropathy

The eye is at the forefront of the application of gene therapy techniques to medicine. In the United States, a gene therapy treatment for Leber’s congenital amaurosis, a rare inherited retinal disease, recently became the first gene therapy to be approved by the FDA for the treatment of disease caused by mutations in a specific gene. Phase III clinical trials of gene therapy for other single-gene defect diseases of the retina and optic nerve are also currently underway. However, for optic nerve diseases not caused by single-gene defects, gene therapy strategies are likely to focus on slowing or preventing neuronal death through the expression of neuroprotective agents. In addition to these strategies, there has also been recent interest in the potential use of precise genome editing techniques to treat ocular disease. This review focuses on recent developments in gene therapy techniques for the treatment of glaucoma and Leber’s hereditary optic neuropathy (LHON). We discuss recent successes in clinical trials for the treatment of LHON using gene supplementation therapy, promising neuroprotective strategies that have been employed in animal models of glaucoma and the potential use of genome editing techniques in treating optic nerve disease.

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 – a case report

Klinika Oczna ◽  
2018 ◽  
Vol 2018 (4) ◽  
pp. 227-231
Author(s):  
Joanna Roskal-Wałek ◽  
Magdalena Gierada ◽  
Jerzy Mackiewicz
Keyword(s):  
Case Report ◽  
Optic Neuropathy ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
Hereditary Optic Neuropathy
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