Leber Hereditary Optic Neuropathy-Associated Novel Mutation in MT-RNR2 Gene: A Case Report
<i>MT-RNR2</i> gene mutation was the possible cause for LHON in this patient. Herein, we describe a novel mutation and associated clinical features. This case report also underscores the importance of considering LHON as a differential diagnosis for optic neuritis, even in a patient with an established MS.
Authors
- Jonathan Andrew Micieli (ORCID: https://orcid.org/0000-0003-4911-9152)
- Sara KamaliZonouzi (ORCID: https://orcid.org/0000-0002-9305-490X)
Institutions
- St. Michael's Hospital (CA)
- University of Toronto (CA)
- Kensington Health (CA)
- Tehran University of Medical Sciences (IR)
Publication Details
- Journal
- Case Reports in Ophthalmology
- Published
- 2025-12-18
- DOI
- https://doi.org/10.1159/000550116
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.00