Salmaggi A, Carrara F, Zeviani M
2nd Division of Neurology, Istituto Nazionale Neurologico Carlo Besta, Milano, Italy.
Int J Neurosci. 1994 Aug;77(3-4):261-6. doi: 10.3109/00207459408986036.
Almost complete spontaneous recovery in visual function was observed in a male patient with Leber's hereditary optic neuropathy (LHON), in spite of the presence of several LHON-associated "major" and "minor" mutations of mitochondrial DNA. Our findings confirm that visual loss in LHON may be reversible, and challenge the hypothesis of a "synergistic" effect of multiple mtDNA mutations in the phenotypic expression of the disease.
在一名患有Leber遗传性视神经病变（LHON）的男性患者中，尽管存在几种与LHON相关的线粒体DNA“主要”和“次要”突变，但仍观察到视觉功能几乎完全自发恢复。我们的研究结果证实，LHON导致的视力丧失可能是可逆的，并对疾病表型表达中多个线粒体DNA突变的“协同”效应这一假说提出了挑战。
