Article
Variant and clinical landscape of Leber hereditary optic neuropathy based on 1516 families with mtDNA variants in a tertiary centre.
The British journal of ophthalmology - 22 Aug 2024
Zheng Yuxi, Wang Yingwei, Jiang Yi, Wang Junwen, Li Shiqiang, Xiao Xueshan, Sun Wenmin, Wang Panfeng, Zhang Qingjiong, Jia Xiaoyun
Abstract excerpt
AIMS: To investigate the clinical characteristics of Leber hereditary optic neuropathy (LHON) with mtDNA primary mutations to better understand features associated with prognosis. METHODS: This study enrolled 1540 LHON patients from 1516 unrelated families genetically confirmed by Sanger or whole...
Topics
- Humans
- Optic Atrophy, Hereditary, Leber
- Male
- Female
- DNA, Mitochondrial
- Adult
- Adolescent
- Child
- Visual Acuity
- Young Adult
- Mutation
- Middle Aged
- Pedigree
- Tertiary Care Centers
- DNA Mutational Analysis