scholarly journals Optic neuropathy and cerebellar ataxia associated with a rare missense variation (A14510G) of mitochondrial DNA

2001 ◽  
Vol 85 (8) ◽  
pp. 1007b-1007 ◽  
Author(s):  
Y. ISASHIKI
Keyword(s):  
Mitochondrial Dna ◽  
Cerebellar Ataxia ◽  
Optic Neuropathy ◽  
Missense Variation

Leber Hereditary Optic Neuropathy - Idebenone, Hope of Treatment

2020 ◽  
Vol 70 (12) ◽  
pp. 4244-4247
Keyword(s):  
Mitochondrial Dna ◽  
Visual Field ◽  
Optic Neuropathy ◽  
Mitochondrial Function ◽  
Dna Analysis ◽  
Central Vision ◽  
Leber Hereditary Optic Neuropathy ◽  
Mitochondrial Dna Analysis ◽  
Hereditary Optic Neuropathy

Leber hereditary optical neuropathy (LHON) is part of the class of optic neuropathies in which the mitochondrial function is impaired and is characterized by a painless, subacute, bilateral decrease of the central vision. We shall present the case of two brothers AM aged 31 and AT aged 40 who were diagnosed with LHON and whom we initiated treatment with idebenone 900 mg / day with monitoring at one month and 6 months. The mitochondrial DNA analysis demonstrated the existence of mutations 11778G>A for the mtND4 gene in both patients. Idebenone is a synthetic benzoquinone, analogue of ubiquinone. We found a slight but significant improvement in the visual field in patient AM at one month of treatment. We have not found another case in the literature with an improvement in vision so fast after this treatment, and this has led us to write this article. Keywords: Leber hereditary optical neuropathy (LHON), idebenone, mutations 11778G>A, mtND4 gene

scholarly journals Harding’s disease: an important MS mimic

2019 ◽  
Vol 12 (3) ◽  
pp. e228337
Author(s):  
Stuti Joshi ◽  
Allan G Kermode
Keyword(s):  
Multiple Sclerosis ◽  
Mitochondrial Dna ◽  
Optic Neuropathy ◽  
Movement Disorders ◽  
Optic Atrophy ◽  
Cardiac Arrhythmias ◽  
Visual Loss ◽  
Mtdna Mutation ◽  
Individual Family ◽  
Hereditary Optic Neuropathy

Leber’s hereditary optic neuropathy (LHON) is a mitochondrially inherited disorder characterised by bilateral, painless visual loss which leads to severe optic atrophy. It can be associated with other conditions including multiple sclerosis (MS), movement disorders, epilepsy and cardiac arrhythmias. The association of LHON with an MS-like illness is often referred to as Harding’s disease (or Harding’s syndrome). We report two siblings, who both harbour the 11 778 mitochondrial DNA (mtDNA) mutation, but who manifest markedly different clinical phenotypes; a male with classical LHON and a female with an MS-like illness. LHON affects males four to five times more often than females. By contrast, Harding’s disease is seen predominantly in females, in a pattern comparable to that seen in MS. The pathogenic basis behind the variation in penetrance and phenotype between genders and individual family members remains unclear.

scholarly journals Leber Hereditary Optic Neuropathy Caused by a Mitochondrial DNA 10663T>C Point Mutation and Its Response to Idebenone Treatment

2018 ◽  
Vol 38 (1) ◽  
pp. 129-131 ◽  
Author(s):  
Øystein Kalsnes Jørstad ◽  
Eva Meling Ødegaard ◽  
Ketil Riddervold Heimdal ◽  
Emilia Kerty ◽  
Ketil Riddervold Heimdal ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Point Mutation ◽  
Optic Neuropathy ◽  
Leber Hereditary Optic Neuropathy ◽  
Hereditary Optic Neuropathy
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