Open AccessResearch progress of Leber hereditary optic neuropathy
Author(s) -
A-Mei Zhang,
Yong-Gang Yao
Publication year - 2013
Publication title -
yichuan
Language(s) - English
Resource type - Journals
ISSN - 0253-9772
DOI - 10.3724/sp.j.1005.2013.00123
Subject(s) - penetrance , leber's hereditary optic neuropathy , optic neuropathy , blindness , mitochondrial dna , medicine , mitochondrial disease , disease , genetics , bioinformatics , ophthalmology , optic nerve , biology , optometry , pathology , phenotype , gene
Leber hereditary optic neuropathy (LHON; MIM 535000) is one of the most common mitochondrial diseases, with a clinical manifestation of painless, acute or sub-acute bilateral visual loss in young adults leading to blindness and central scotoma. Over 95% of LHON patients were caused by one of three primary mtDNA mutations (m.11778G>A, m.3460G>A and m.14484T>C). Incomplete penetrance and gender bias are two riddles of this disease. Here we summarized recent research progress of LHON, with a focus on the molecular pathogenic mechanisms, clinical features, in vitro experiments and animal models, and prevention and treatment of LHON. In particular, we presented the main findings and challenges in our recent efforts to decipher genetic susceptibility and mechanism of LHON in Chinese patients.