Leber hereditary optic neuropathy and dystonia overlapping mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes due to m.14459G>A mutation

2021 ◽  
Author(s):  
Xiaolin Yu ◽  
Kunqian Ji ◽  
Yan Lin ◽  
Xuebi Xu ◽  
Wei Wang ◽  
...  
Keyword(s):  
Lactic Acidosis ◽  
Optic Neuropathy ◽  
Mitochondrial Encephalomyopathy ◽  
Leber Hereditary Optic Neuropathy ◽  
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 A Typical Case Presentation with Spontaneous Visual Recovery in Patient Diagnosed with Leber Hereditary Optic Neuropathy due to Rare Point Mutation in MT-ND4 Gene (m.11253T>C) and Literature Review

Medicina ◽  
2021 ◽  
Vol 57 (3) ◽  
pp. 202
Author(s):  
Rasa Liutkeviciene ◽  
Agne Sidaraite ◽  
Lina Kuliaviene ◽  
Brigita Glebauskiene ◽  
Neringa Jurkute ◽  
...  
Keyword(s):  
Optic Neuropathy ◽  
Vision Loss ◽  
European Medicines Agency ◽  
Visual Recovery ◽  
Leber Hereditary Optic Neuropathy ◽  
Diagnostic Features ◽  
Mitochondrial Respiratory Chain Complex ◽  
Male Predominance ◽  
Mtdna Mutations ◽  
Hereditary Optic Neuropathy

Leber hereditary optic neuropathy (LHON) is one of the most common inherited mitochondrial optic neuropathies, caused by mitochondrial DNA (mtDNA) mutations. Three most common mutations, namely m.11778G>A, m.14484T>G and m.3460G>A, account for the majority of LHON cases. These mutations lead to mitochondrial respiratory chain complex I damage. Typically, LHON presents at the 15–35 years of age with male predominance. LHON is associated with severe, subacute, painless bilateral vision loss and account for one of the most common causes of legal blindness in young individuals. Spontaneous visual acuity recovery is rare and has been reported in patients harbouring m.14484T>C mutation. Up to date LHON treatment is limited. Idebenone has been approved by European Medicines Agency (EMA) to treat LHON. However better understanding of disease mechanisms and ongoing treatment trials are promising and brings hope for patients. In this article we report on a patient diagnosed with LHON harbouring rare m.11253T>C mutation in MT-ND4 gene, who experienced spontaneous visual recovery. In addition, we summarise clinical presentation, diagnostic features, and treatment.

scholarly journals Treatment strategies for Leber hereditary optic neuropathy

2019 ◽  
Vol 32 (1) ◽  
pp. 99-104 ◽  
Author(s):  
Neringa Jurkute ◽  
Joshua Harvey ◽  
Patrick Yu-Wai-Man
Keyword(s):  
Optic Neuropathy ◽  
Treatment Strategies ◽  
Leber Hereditary Optic Neuropathy ◽  
Hereditary Optic Neuropathy

Leber Hereditary Optic Neuropathy Mimicking Neuromyelitis Optica

2011 ◽  
Vol 31 (3) ◽  
pp. 265-268 ◽  
Author(s):  
Collin M McClelland ◽  
Gregory P Van Stavern ◽  
Alex C Tselis
Keyword(s):  
Neuromyelitis Optica ◽  
Optic Neuropathy ◽  
Leber Hereditary Optic Neuropathy ◽  
Hereditary Optic Neuropathy

scholarly journals The Epidemiology of Leber Hereditary Optic Neuropathy in the North East of England

2016 ◽  
Vol 98 (6) ◽  
pp. 1271 ◽  
Author(s):  
P. Yu-Wai-Man ◽  
P.G. Griffiths ◽  
N. Howell ◽  
D.M. Turnbull ◽  
P.F. Chinnery
Keyword(s):  
Optic Neuropathy ◽  
Leber Hereditary Optic Neuropathy ◽  
North East ◽  
The North ◽  
Hereditary Optic Neuropathy
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