{Reference Type}: Journal Article
{Title}: Mitochondrial Mutations in Multiple Sclerosis Patients with Atypical Optic Neuropathy.
{Author}: Beckmann Y;Uzunköprü C;Subaşıoğlu A;
{Journal}: Mult Scler Relat Disord
{Volume}: 55
{Issue}: 0
{Year}: Oct 2021
{Factor}: 4.808
{DOI}: 10.1016/j.msard.2021.103166
{Abstract}: <B>BACKGROUND: </B>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.<BR><B>METHODS: </B>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.<BR><B>RESULTS: </B>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.<BR><B>CONCLUSIONS: </B>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.