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
相关论文
共 50 条
  • [21] The neuropathology of Leber's hereditary optic neuropathy
    Howell, N
    Bindoff, LA
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 1997, 38 (04) : 1142 - 1142
  • [22] MtDNA and Leber's hereditary optic neuropathy
    Ding, Yu
    Xia, Bo-Hou
    INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL PATHOLOGY, 2017, 10 (10): : 10695 - 10695
  • [23] TREATMENTS FOR LEBER'S HEREDITARY OPTIC NEUROPATHY
    Rosenfeld, A. E.
    Sadun, A. A.
    DRUGS OF THE FUTURE, 2010, 35 (02) : 129 - 133
  • [24] Leber's hereditary optic neuropathy and the pupil
    Helmut Wilhelm
    Graefe's Archive for Clinical and Experimental Ophthalmology, 2005, 243 : 1077 - 1079
  • [25] Leber's hereditary optic neuropathy and the pupil
    Wilhelm, H
    GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, 2005, 243 (11) : 1077 - 1079
  • [26] LEBER HEREDITARY OPTIC NEUROPATHY
    NIKOSKELAINEN, EK
    CURRENT OPINION IN OPHTHALMOLOGY, 1991, 2 (05) : 531 - 537
  • [27] LEBER HEREDITARY OPTIC NEUROPATHY
    VOLPE, NJ
    LESSELL, S
    INTERNATIONAL OPHTHALMOLOGY CLINICS, 1993, 33 (02) : 153 - 168
  • [28] Leber hereditary optic neuropathy
    Man, PYW
    Turnbull, DM
    Chinnery, PF
    JOURNAL OF MEDICAL GENETICS, 2002, 39 (03) : 162 - 169
  • [29] Leber Hereditary Optic Neuropathy
    Shalbafan, Bita
    IRANIAN JOURNAL OF CHILD NEUROLOGY, 2013, 7 (04) : 24 - 24
  • [30] LEBER HEREDITARY OPTIC NEUROPATHY
    Kopishinskaya, S. V.
    Svetozarskiy, S. N.
    Gustov, A. V.
    SOVREMENNYE TEHNOLOGII V MEDICINE, 2014, 6 (02) : 148 - 151