Bilateral vision loss due to Leber’s hereditary optic neuropathy after long-term alcohol, nicotine and drug abuse

2018 ◽  
Vol 136 (2) ◽  
pp. 145-153 ◽  
Author(s):  
Johanna Maass ◽  
Egbert Matthé
Keyword(s):  
Drug Abuse ◽  
Optic Neuropathy ◽  
Vision Loss ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
Hereditary Optic Neuropathy

scholarly journals Mitochondrial DNA variation of Leber’s Hereditary Optic Neuropathy (LHON) in Western Siberia

2019 ◽  
Author(s):  
E.B. Starikovskaya ◽  
S.A. Shalaurova ◽  
S.V. Dryomov ◽  
A.M. Nazhmidenova ◽  
N.V. Volodko ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Optic Neuropathy ◽  
Western Siberia ◽  
Vision Loss ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Inherited Disease ◽  
Leber's Hereditary Optic Neuropathy ◽  
Mtdna Mutations ◽  
Pathogenic Mutations ◽  
Hereditary Optic Neuropathy

AbstractLeber’s hereditary optic neuropathy (LHON) is a form of disorder caused by pathogenic mutations in a mitochondrial DNA. LHON is maternally inherited disease, which manifests mainly in young adults, affecting predominantly males. Clinically LHON has a manifestation as painless central vision loss, resulting in early onset of disability. Epidemiology of LHON has not been fully investigated yet. In this study, we report 44 genetically unrelated families with LHON manifestation. We performed whole mtDNA genome sequencing and provided genealogical and molecular genetic data on mutations and haplogroup background of LHON patients in the Western Siberia population. Known “primary” pathogenic mtDNA mutations (MITOMAP) were found in 32 families: m.11778G>A represents 53,10% (17/32), m.3460G>A – 21,90% (7/32), m.14484T>C – 18,75% (6/32), and rare m.10663T>C and m.3635G>A represent 6,25% (2/32). We describe potentially pathogenic m.4659G>A in one subject without known pathogenic mutations, and potentially pathogenic m.9444C>T, m.6261G>A, m.9921G>A, m.8551T>C, m.8412T>C, m.15077G>A in families with known pathogenic mutations confirmed. We suppose these mutations could contribute to the pathogenesis of optic neuropathy development. Our results indicate that haplogroup affiliation and mutational spectrum of the Western Siberian LHON cohort substantially deviate from those of European populations.

scholarly journals Can the effects of the mitochondrial DNA mutations found in Leber’s hereditary optic neuropathy be protective against the development of cluster headache in smokers?

2020 ◽  
Vol 3 ◽  
pp. 251581632093957 ◽  
Author(s):  
Todd D Rozen
Keyword(s):  
Mitochondrial Dna ◽  
Cluster Headache ◽  
Protective Effect ◽  
Optic Neuropathy ◽  
Vision Loss ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
Tobacco Exposure ◽  
Mtdna Mutations ◽  
Hereditary Optic Neuropathy

Is it possible that some mitochondrial DNA (mtDNA) mutations enhance the risk of developing a headache disorder while other mutations actually confer a protective effect? Mitochondrial disorders have been linked to migraine but very rarely to cluster headache (CH). The true pathogenesis of CH is unknown but a linkage to cigarette smoking is irrefutable. Leber’s hereditary optic neuropathy is a syndrome of bilateral vision loss that typically manifests in a patient’s 20s and 30s, is male predominant, and its sufferers are heavy smokers and heavy drinkers. Tobacco exposure is so linked to the condition that only smokers appear to develop vision loss while nonsmokers remain unaffected carriers of their mutations. In essence, the Leber’s hereditary optic neuropathy population is the CH population but at present there have been no reported cases of CH in this mitochondrial subgroup. Thus, could the effects of the mtDNA mutations found in Leber’s hereditary optic neuropathy, which involve complex I of the electron transport chain, actually confer a protective effect against the development of CH? This article will delve into this theory.

scholarly journals Leber’s hereditary optic neuropathy misdiagnosed as optic neuritis and Lyme disease in a patient with multiple sclerosis

2018 ◽  
Vol 11 (1) ◽  
pp. e227109 ◽  
Author(s):  
Melinda Chang
Keyword(s):  
Multiple Sclerosis ◽  
Optic Neuritis ◽  
Optic Disc ◽  
Optic Neuropathy ◽  
Vision Loss ◽  
White Matter Lesions ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
Intravenous Steroids ◽  
Hereditary Optic Neuropathy

A 28-year-old Caucasian man developed sudden painless vision loss in the right eye. He was diagnosed with optic neuritis. MRI showed white matter lesions consistent with multiple sclerosis (MS), but no optic nerve enhancement. Eight months later, the left eye was affected in the same manner. Examination showed right optic atrophy and apparent left optic disc swelling. Workup revealed positive Lyme IgG. Differential diagnosis included optic neuritis and Lyme optic neuropathy, and he was treated with intravenous steroids, intravenous immunoglobulin, plasmapheresis and intravenous ceftriaxone without improvement. Neuro-ophthalmology consultation led to identification of pseudo-optic disc oedema, and Leber’s hereditary optic neuropathy (LHON) was suspected and confirmed by genetic testing. LHON may occur in association with MS, and should be considered in patients with MS with vision loss atypical for optic neuritis. This is especially important as new treatments for LHON (including gene therapy) are currently undergoing clinical trials.

Hereditary Optic Neuropathy

2011 ◽  
pp. 25-28
Author(s):  
Matthew J. Thurtell ◽  
Robert L. Tomsak ◽  
Robert B. Daroff
Keyword(s):  
Optic Neuropathy ◽  
Optic Atrophy ◽  
Vision Loss ◽  
Treatment Options ◽  
Monocular Vision ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
Central Vision Loss ◽  
Promising Treatment ◽  
Hereditary Optic Neuropathy

Monocular and binocular vision loss can occasionally be caused by hereditary optic neuropathy. While progressive painless binocular central vision loss is characteristic of dominant optic atrophy, acute painless monocular vision loss is characteristic of Leber’s hereditary optic neuropathy. We discuss the clinical features and evaluation of Leber’s hereditary optic neuropathy and briefly mention promising treatment options.

scholarly journals Beyond Eye Care – Low Vision Rehabilitation of a Patient with Recent-Onset Leber’s Hereditary Optic Neuropathy: A Case Report

2014 ◽  
Vol 76 (2) ◽  
pp. 7
Author(s):  
Teresa Poon ◽  
T. Labreche
Keyword(s):  
Optic Neuropathy ◽  
Vision Loss ◽  
Low Vision ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
Recent Onset ◽  
Low Vision Rehabilitation ◽  
Vision Rehabilitation ◽  
The Impact ◽  
Hereditary Optic Neuropathy

Leber’s hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial deoxyribonucleic acid (DNA) mutation that results in painless, sudden-onset, bilateral central vision loss and dyschromatopsia. Currently, there are no proven treatments to prevent or reverse the optic neuropathy in LHON. Accordingly, individualized rehabilitation services and assistive devices for low vision are crucial for helping people with LHON to regain independence and quality of life. This report describes the impact of multidisciplinary low vision rehabilitation on a young man with recent-onset LHON and emphasizes the importance of the provision of emotional support through counselling for low vision.

scholarly journals Long-term evaluation of Leber’s hereditary optic neuropathy-like symptoms in rotenone administered rats

2015 ◽  
Vol 585 ◽  
pp. 171-176 ◽  
Author(s):  
Li Zhang ◽  
Laura Liu ◽  
Ann L. Philip ◽  
Juan C. Martinez ◽  
Juan C. Guttierez ◽  
...  
Keyword(s):  
Optic Neuropathy ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
Term Evaluation ◽  
Hereditary Optic Neuropathy

scholarly journals Mitochondrial DNA Variation of Leber’s Hereditary Optic Neuropathy in Western Siberia

Cells ◽  
2019 ◽  
Vol 8 (12) ◽  
pp. 1574 ◽  
Author(s):  
Elena Starikovskaya ◽  
Sofia Shalaurova ◽  
Stanislav Dryomov ◽  
Azhar Nazhmidenova ◽  
Natalia Volodko ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Optic Neuropathy ◽  
Western Siberia ◽  
Vision Loss ◽  
Molecular Genetic ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
Mtdna Mutations ◽  
Pathogenic Mutations ◽  
Hereditary Optic Neuropathy

Our data first represent the variety of Leber’s hereditary optic neuropathy (LHON) mutations in Western Siberia. LHON is a disorder caused by pathogenic mutations in the mitochondrial DNA (mtDNA), inherited maternally and presents mainly in young adults, predominantly males. Clinically, LHON manifests itself as painless central vision loss, resulting in early onset of disability. The epidemiology of LHON has not been fully investigated yet. In this study, we report 44 genetically unrelated families with LHON manifestation. We performed whole mtDNA genome sequencing and provided genealogical and molecular genetic data on mutations and haplogroup background of LHON patients. Known “primary” pathogenic mtDNA mutations (MITOMAP) were found in 32 families: m.11778G>A represents 53.10% (17/32), m.3460G>A—21.90% (7/32), m.14484T>C–18.75% (6/32), and rare m.10663T>C and m.3635G>A represent 6.25% (2/32). We describe potentially pathogenic m.4659G>A in one subject without known pathogenic mutations, and potentially pathogenic m.6261G>A, m.8412T>C, m.8551T>C, m.9444C>T, m.9921G>A, and m.15077G>A in families with known pathogenic mutations confirmed. We suppose these mutations could contribute to the pathogenesis of optic neuropathy development. Our results indicate that haplogroup affiliation and mutational spectrum of the Western Siberian LHON cohort substantially deviate from those of European populations.

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