DNAJC30 Mutation in a Patient with Coexisting Leber’s Hereditary Optic Neuropathy and Multiple Sclerosis (Harding’s Syndrome): A Case Report
This case further expands the clinical presentations of <i>DNAJC30</i>-related LHON and underscores the importance of considering LHON in patients with demyelinating syndrome presenting with severe bilateral visual loss and presumed optic neuritis unresponsive to steroids.
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)
- Unity Health Toronto
- Tehran University of Medical Sciences (IR)
Publication Details
- Journal
- Case Reports in Ophthalmology
- Published
- 2025-03-07
- DOI
- https://doi.org/10.1159/000545079
- Primary Topic
- Multiple Sclerosis Research Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00