Exploring rare mitochondrial DNA in Leber hereditary optic neuropathy
Our study probes into the clinical and genetic diversity of LHON with rare mtDNA mutations, revealing varied clinical presentations, such as more frequent unilateral involvement and enhanced optic nerve T2 MRI signals. Visual recovery was significantly better in the younger cohort. These results suggest the need for broader genetic testing in atypical LHON cases and offer insights into better prognostic strategies for new therapies.
Authors
- Quangang Xu (ORCID: https://orcid.org/0000-0002-4507-1377)
- Shanshan Cao
- Huanfen Zhou (ORCID: https://orcid.org/0000-0002-8170-8195)
- Mingming Sun (ORCID: https://orcid.org/0000-0002-1990-7484)
- Yuan Zhang (ORCID: https://orcid.org/0000-0002-2463-4599)
- Yonghua Sun
- Shihui Wei (ORCID: https://orcid.org/0000-0003-2910-0446)
- Yong Liu (ORCID: https://orcid.org/0009-0000-5332-8446)
Institutions
- Chinese PLA General Hospital (CN)
- Air Force General Hospital PLA (CN)
Publication Details
- Journal
- Advances in Ophthalmology Practice and Research
- Published
- 2025-08-22
- DOI
- https://doi.org/10.1016/j.aopr.2025.08.001
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.00