Progress in diagnosis and treatment of Leber's hereditary optic neuropathy

被引:3
作者
Ma, Qingyue [1 ]
Sun, Ying [2 ]
Lei, Ke [3 ]
Luo, Wenjuan [1 ]
机构
[1] Qingdao Univ, Dept Ophthalmol, Affiliated Hosp, Qingdao, Peoples R China
[2] Qingdao Univ, Affiliated Qingdao Cent Hosp, Affiliated Hosp 2, Med Coll, Qingdao, Peoples R China
[3] Qingdao Univ, Ctr Tumor Immunol & Cytotherapy, Med Res Ctr, Affiliated Hosp, Qingdao, Peoples R China
来源
JOURNAL OF MOLECULAR MEDICINE-JMM | 2023年 / 102卷 / 1期
基金
中国国家自然科学基金;
关键词
Leber's hereditary optic neuropathy; mtDNA; Diagnosis; Treatment; Progress; MANIFESTATION; IDEBENONE;
D O I
10.1007/s00109-023-02389-2
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Leber's hereditary optic neuropathy (LHON) is a mitochondrial genetic disease with central vision loss as the main symptom. It is one of the diseases that cause vision loss and optic atrophy in young and middle-aged people. The mutations of these three primary mitochondrial mutations, m.11778G>A, m.14484T>C, and m.3460G>A, are the main molecular basis, but their pathogenesis is also affected by nuclear genes, mitochondrial genetic background, and environmental factors. This article summarizes the research progress on molecular pathogenesis, clinical symptoms, and treatment of LHON in recent years, aiming to summarize the genetic pathogenesis and clinical treatment points of LHON.
引用
收藏
页码:1 / 10
页数:10
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