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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-mitochondrial sequencing between 1997 and 2022. The spectrum of variants was summarised and compared in different...

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Identifiers

PMID: 38346855
DOI: 10.1136/bjo-2023-323557

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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