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患有Leber遗传性视神经病变及11778突变患者的视力恢复情况

Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation.

作者信息

Stone E M, Newman N J, Miller N R, Johns D R, Lott M T, Wallace D C

机构信息

Department of Ophthalmology, University of Iowa College of Medicine, Iowa City.

出版信息

J Clin Neuroophthalmol. 1992 Mar;12(1):10-4.

PMID:1532593
Abstract

Five patients with Leber's hereditary optic neuropathy (LHON) and the 11778 mitochondrial mutation spontaneously recovered 20/40 or better visual acuity in at least one eye after months to years of legal blindness. The patients ranged in age from 9 to 45 years, and the duration of visual loss before recovery ranged from several months to 5.9 years. These patients constitute only about 4% of the 136 affected LHON patients we have studied who also had the 11778 mutation in their mitochondrial DNA. Thus, even though the visual prognosis for most patients with LHON and the 11778 mutation is poor, a few individuals do recover near-normal vision in at least one eye even years after the initial visual loss.

摘要

五名患有Leber遗传性视神经病变(LHON)且存在11778线粒体突变的患者,在经历数月至数年的法定失明后,至少一只眼睛的视力自发恢复到了20/40或更好。患者年龄在9岁至45岁之间,恢复前视力丧失的持续时间从几个月到5.9年不等。这些患者仅占我们研究的136例受影响的LHON患者的约4%,这些患者的线粒体DNA中也存在11778突变。因此,即使大多数患有LHON和11778突变的患者视觉预后不佳,但仍有少数个体即使在最初视力丧失数年之后,至少一只眼睛的视力也能恢复到接近正常。

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