Long-term screening for primary mitochondrial DNA variants associated with Leber hereditary optic neuropathy: incidence, penetrance and clinical features

Mitochondrion ◽  
2020 ◽  
Vol 54 ◽  
pp. 128-132
Author(s):  
Rosetta Marotta ◽  
Judy Chin ◽  
Maria Chiotis ◽  
Neil Shuey ◽  
Steven J. Collins
Keyword(s):  
Mitochondrial Dna ◽  
Clinical Features ◽  
Optic Neuropathy ◽  
Leber Hereditary Optic Neuropathy ◽  
Dna Variants ◽  
Mitochondrial Dna Variants ◽  
Hereditary Optic Neuropathy

Clinical features of vision improvement in patients with Leber hereditary optic neuropathy

2020 ◽  
pp. 47-49
Author(s):  
N.L. Sheremet ◽  
◽  
N.A. Andreeva ◽  
N.V. Zhorzholadze ◽  
M.S. Shmelkova ◽  
...  
Keyword(s):  
Clinical Features ◽  
Optic Neuropathy ◽  
Leber Hereditary Optic Neuropathy ◽  
Hereditary Optic Neuropathy

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 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

Clinical Features of Genetically Proved Leber Hereditary Optic Neuropathy in China

2007 ◽  
Vol 31 (5-6) ◽  
pp. 207-210
Author(s):  
Wei Wang ◽  
Shi-lei Cui ◽  
Ling Yang ◽  
Jun Shang ◽  
Wen-bin Wei ◽  
...  
Keyword(s):  
Clinical Features ◽  
Optic Neuropathy ◽  
Leber Hereditary Optic Neuropathy ◽  
Hereditary Optic Neuropathy
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