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.
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Doheny Eye Inst, 1355 San Pablo St, Los Angeles, CA 90033 USA
Univ Calif Los Angeles, David Geffen Sch Med, Dept Ophthalmol, Doheny Eye Ctr, Los Angeles, CA 90095 USA
Univ Ottawa, Dept Ophthalmol, Ottawa Eye Inst, Ottawa, ON, Canada
Ottawa Hosp Res Inst, Ottawa, ON, CanadaDoheny Eye Inst, 1355 San Pablo St, Los Angeles, CA 90033 USA
Karanjia, Rustum
Chahal, Jasdeep
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Doheny Eye Inst, 1355 San Pablo St, Los Angeles, CA 90033 USADoheny Eye Inst, 1355 San Pablo St, Los Angeles, CA 90033 USA
Chahal, Jasdeep
Ammar, Michael
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Doheny Eye Inst, 1355 San Pablo St, Los Angeles, CA 90033 USADoheny Eye Inst, 1355 San Pablo St, Los Angeles, CA 90033 USA
Ammar, Michael
Sadun, Alfredo A.
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Doheny Eye Inst, 1355 San Pablo St, Los Angeles, CA 90033 USA
Univ Calif Los Angeles, David Geffen Sch Med, Dept Ophthalmol, Doheny Eye Ctr, Los Angeles, CA 90095 USADoheny Eye Inst, 1355 San Pablo St, Los Angeles, CA 90033 USA
机构:
Emory Univ, Dept Ophthalmol, Atlanta, GA 30322 USA
Emory Univ, Dept Pediat, Atlanta, GA 30322 USAEmory Univ, Dept Ophthalmol, Atlanta, GA 30322 USA
Peragallo, Jason H.
Newman, Nancy J.
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Emory Univ, Dept Ophthalmol, Atlanta, GA 30322 USA
Emory Univ, Dept Neurol, Atlanta, GA 30322 USA
Emory Univ, Dept Neurol Surg, Atlanta, GA 30322 USAEmory Univ, Dept Ophthalmol, Atlanta, GA 30322 USA
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Doheny Eye Inst, Dept Ophthalmol, Los Angeles, CA 90033 USA
Doheny Eye Inst, Dept Neurosurg, Los Angeles, CA 90033 USADoheny Eye Inst, Dept Ophthalmol, Los Angeles, CA 90033 USA
Sadun, Alfredo A.
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La Morgia, Chiara
Carelli, Valerio
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Univ Bologna, Dept Neurol Sci, I-40123 Bologna, ItalyDoheny Eye Inst, Dept Ophthalmol, Los Angeles, CA 90033 USA