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Murakhovskaya Yu.K.
Krasnov Research Institute of Eye Diseases;
Sechenov First Moscow State Medical University
Tsygankova P.G.
Bochkov Research Center for Medical Genetics
Zakharova M.N.
Research Center of Neurology
Hereditary optic neuropathy associated with demyelinating diseases of the central nervous system
Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2023;123(7‑2): 122‑132
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To cite this article:
Eliseeva DD, Kalashnikova AK, Bryukhov VV, et al. . Hereditary optic neuropathy associated with demyelinating diseases of the central nervous system. S.S. Korsakov Journal of Neurology and Psychiatry.
2023;123(7‑2):122‑132. (In Russ.)
https://doi.org/10.17116/jnevro2023123072122
Demyelinating optic neuritis and hereditary optic neuropathy (HON) take a leading place among the diseases, the leading clinical syndrome of which is bilateral optic neuropathy with a simultaneous or sequential significant decrease in visual acuity. Optic neuritis can occur at the onset or be one of the syndromes within multiple sclerosis (MS), neuromyelitis optica spectrum disorders (NMOSD), and myelin oligodendrocyte glycoprotein (MOG) antibody disease (MOGAD). HON are a group of neurodegenerative diseases, among which the most common variants are Leber’s hereditary optic neuropathy (LHON), associated with mitochondrial DNA (mtDNA) mutations, and autosomal recessive optic neuropathy (ARON), caused by nuclear DNA (nDNA) mutations in DNAJC30. There are phenotypes of LHON «plus», one of which is the association of HON and CNS demyelination in the same patient. In such cases, the diagnosis of each of these diseases causes significant difficulties, due to the fact that in some cases there are clinical and radiological coincidences between demyelinating and hereditary mitochondrial diseases.
Keywords:
Authors:
Murakhovskaya Yu.K.
Krasnov Research Institute of Eye Diseases;
Sechenov First Moscow State Medical University
Tsygankova P.G.
Bochkov Research Center for Medical Genetics
Zakharova M.N.
Research Center of Neurology
Received:
22.05.2023
Accepted:
02.06.2023
List of references:
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