Leber's Hereditary Optic Neuropathy

被引:95
|
作者
Sadun, Alfredo A. [1 ,2 ]
La Morgia, Chiara [3 ]
Carelli, Valerio [3 ]
机构
[1] Doheny Eye Inst, Dept Ophthalmol, Los Angeles, CA 90033 USA
[2] Doheny Eye Inst, Dept Neurosurg, Los Angeles, CA 90033 USA
[3] Univ Bologna, Dept Neurol Sci, I-40123 Bologna, Italy
关键词
LARGE BRAZILIAN PEDIGREE; FIBER LAYER EVALUATION; MITOCHONDRIAL-DNA; ASYMPTOMATIC CARRIERS; COHERENCE TOMOGRAPHY; VISUAL RECOVERY; IDEBENONE; DYSFUNCTION; EXPRESSION; PREVENTS;
D O I
10.1007/s11940-010-0100-y
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Leber's hereditary optic neuropathy (LHON) is a maternally inherited blinding disease with variable penetrance. Three primary mitochondrial DNA mutations, affecting the respiratory complex I, are necessary but not sufficient to cause blindness. Reduced efficiency of ATP synthesis and increased oxidative stress are believed to sensitize the retinal ganglion cells to apoptosis. Different therapeutic strategies are considered to counteract this pathogenic mechanism. However, potential treatments for the visual loss are complicated by the fact that patients are unlikely to benefit after optic atrophy occurs. There is no proven therapy to prevent or reverse the optic neuropathy in LHON. Results from a recent trial with idebenone hold promise to limit neurodegeneration and improve final outcome, promoting recovery of visual acuity. Other therapeutic options are under scrutiny, including gene therapy, agents increasing mitochondrial biogenesis, and anti-apoptotic drugs.
引用
收藏
页码:109 / 117
页数:9
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