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Mitochondrial Mutations in Multiple Sclerosis Patients with Atypical Optic Neuropathy
Yesim Beckmann1, Cihat Uzunköprü1, Aslı Subaşıoğlu2
1Department of Neurology, Izmir Katip Çelebi University, Izmir, Turkey.
Multiple Sclerosis and Related Disorders
|August 1, 2021
Summary
Investigating progressive vision loss in multiple sclerosis patients with optic neuritis revealed pathogenic mitochondrial mutations in some cases. This finding highlights the importance of screening for Leber's hereditary optic neuropathy in affected individuals.
Area of Science:
- Neurology
- Ophthalmology
- Genetics
Background:
- Multiple sclerosis (MS)-related optic neuritis typically shows good visual recovery.
- Progressive visual worsening in MS patients despite treatment necessitates investigation into underlying causes.
Purpose of the Study:
- To identify causes of progressive visual decline in MS patients with optic neuritis.
- To investigate the prevalence of Leber's hereditary optic neuropathy (LHON) in MS patients with atypical optic neuritis.
Main Methods:
- Retrospective review of medical records of MS patients with optic neuritis (2001-2020).
- Screening for LHON genetic mutations in patients with progressive visual loss or poor recovery.
- Evaluation of clinical characteristics of optic neuritis in MS patients.
Main Results:
- Of 1014 MS patients, 411 had optic neuritis; 11 showed atypical features.
- Pathogenic mitochondrial mutations were identified in 5 out of 11 MS patients with atypical optic neuritis.
- The prevalence of mitochondrial mutations in MS patients with optic neuritis was 0.12%.
Conclusions:
- Mitochondrial mutations, particularly LHON, should be considered in MS patients with severe, non-recovering optic neuritis.
- Identifying LHON mutations is crucial due to poor visual prognosis and genetic counseling implications.
- This study underscores the need for comprehensive etiological investigation in MS-related optic neuritis presenting with atypical features.
