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Combination of Leber’s Hereditary Optic Neuropathy and Multiple Sclerosis
https://doi.org/10.30629/2658-7947-2025-30-4-38-43
Abstract
In this article we present a clinical case of a combination of Leber’s hereditary optic neuropathy (LHON) and multiple sclerosis (MS) in a 19-year-old female patient. Initially disease manifested with painless vision loss in the right eye. Two weeks later, the patient experienced visual impairment in the second eye. MRI of the brain and spinal cord revealed lesions typical for MS. Laboratory examination revealed CSF oligoclonal bands (type 2 synthesis). Despite undergoing pulse therapy with methylprednisolone and plasma exchange, no improvement in vision was observed. The course of optic neuropathy was atypical for MS, leading to a suspicion of LHON. Genetic testing identifi ed the mutation m.11778G > A in the MT-ND4 gene, confi rming the diagnosis. This case highlights the need for further investigation into the comorbidity of MS with LHON and the shared pathophysiological mechanisms underlying both diseases.
About the Authors
D. E. Prokhorov
I.M. Sechenov First Moscow State Medical University
Russian Federation
Russian Federation
Moscow, Russia
Sh. R. Nabiev
I.M. Sechenov First Moscow State Medical University
Russian Federation
Russian Federation
Moscow, Russia
R. R. Zhetishev
Russian National Research Medical University named after N.I. Pirogova (Pirogov University); Federal Center of Brain Research and Neurotechnologies of the Federal Medical Biological Agency of Russia
Russian Federation
Russian Federation
Moscow, Russia
I. S. Zhetisheva
Kabardino-Balkarian State University named after H.M. Berbekov
Russian Federation
Russian Federation
Nalchik, Russia
O. N. Voskresenskaya
I.M. Sechenov First Moscow State Medical University
Russian Federation
Russian Federation
Moscow, Russia
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Review
For citations:
Prokhorov D.E., Nabiev Sh.R., Zhetishev R.R., Zhetisheva I.S., Voskresenskaya O.N. Combination of Leber’s Hereditary Optic Neuropathy and Multiple Sclerosis. Russian neurological journal. 2025;30(4):38-43. (In Russ.) https://doi.org/10.30629/2658-7947-2025-30-4-38-43
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