Research progress of Leber hereditary optic neuropathy / 中华实验眼科杂志
Chinese Journal of Experimental Ophthalmology
;
(12): 755-759, 2015.
Article
in Chinese
| WPRIM
| ID: wpr-637572
ABSTRACT
Leber hereditary optic neuropathy (LHON) is one of the most common maternally transmitted hereditary retinal diseases,which is mainly caused by one of the three point mutations in mitochondrial DNA(mt DNA) (G11778A,G3460A and G14484C).LHON is characterized by painless,acute or sub-acute bilateral visual loss in young men with central scotoma.Incomplete dominance and gender bias are two puzzles of this disease.Although currently there is no effective therapy to prevent or cure the LHON,the ongoing clinical trials of gene therapy have showed initial success in some LHON patients with G11778A mutation.Here we summarized recent research progress of LHON,focusing on the clinical features,molecular and pathogenic mechanisms,animal models,and gene therapy of it.
Full text:
Available
Index:
WPRIM (Western Pacific)
Language:
Chinese
Journal:
Chinese Journal of Experimental Ophthalmology
Year:
2015
Type:
Article
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