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Combination of Leber’s Hereditary Optic Neuropathy and Multiple Sclerosis

Year: 2025

Type: article

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.

Source: Russian neurological Journal

DOI: 10.30629/2658-7947-2025-30-4-38-43

Authors: D. E. Prokhorov, Sh. R. Nabiev, R. R. Zhetishev, I. S. Zhetisheva, O. N. Voskresenskaya

Institutions: Sechenov University, Pirogov Russian National Research Medical University, Federal Medical-Biological Agency, Kabardino-Balkarian State University

Language: English

Topic: Multiple Sclerosis Research Studies

Subfield: Pathology and Forensic Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

OpenAlex ID: W4414856641

FWCI:

Cites: 24

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