Mitochondrial Mutations in Multiple Sclerosis Patients with Atypical Optic Neuropathy

• Published in: Multiple sclerosis and related disorders 2021-10, Vol.55, p.103166-103166, Article 103166
• Main Authors: Beckmann, Yesim, Uzunköprü, Cihat, Subaşıoğlu, Aslı
• Format: Article
• Language: English
• Subjects: Harding's syndrome; Leber's hereditary optic neuropathy; Multiple sclerosis
• ISSN: 2211-0348; 2211-0356
• DOI: 10.1016/j.msard.2021.103166

: Multiple sclerosis-related optic neuritis is mostly associated with good recovery. The aim of this study was to investigate the causes of progressive visual worsening in multiple sclerosis patients despite treatment. : We retrospectively reviewed the medical records of multiple sclerosis patients with optic neuritis admitted to the ward of our Neurology Department between 2001 and 2020. The patients with unilateral/bilateral progressive visual loss or non-substantial recovery of visual acuity were screened for genetic testing for Leber's hereditary optic neuropathy. : Of 1014 multiple sclerosis patients, 411 (39%) reported having optic neuritis. During follow-up, 11 patients manifested atypical characteristics of multiple sclerosis-related optic neuritis (presence of one of the following clinical findings: bilateral simultaneous or sequential eye involvement, progressive visual loss, or no response to corticosteroids during hospitalization), while others presented with typical multiple sclerosis-related optic neuritis. Those multiple sclerosis patients with atypical characteristics of optic neuritis were screened for other possible etiologies of optic neuropathy. We found pathogenic mitochondrial mutations in 5 patients with multiple sclerosis in our study group. : In our study group, the prevalence of mitochondrial mutations among all multiple sclerosis patients with optic neuritis was 0.12%. We strongly recommend investigating Leber's hereditary optic neuropathy mutations in MS patients if they suffer from severe or bilateral visual loss without recovery during follow-up. Because Leber's hereditary optic neuropathy mitochondrial mutations indicate relatively poor visual prognosis and have important implications for genetic counseling. •This study revealed new mitochondrial mutations in multiple sclerosis patients with atypical optic neuropathy.•Multiple sclerosis patients with poor prognostic optic neuritis should be screened for Leber's hereditary optic neuropathy mutations.•Our data will assist neurologists in considering alternative etiologies of optic neuropathies other than multiple sclerosis.