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一家系莱伯遗传性视神经病变患者的视力改善。

Vision improvement in a Taiwanese (Han Chinese) family with Leber's hereditary optic neuropathy.

机构信息

Department of Ophthalmology, Buddhist Tzu Chi General Hospital, Hualien, Taiwan.

出版信息

Kaohsiung J Med Sci. 2012 Dec;28(12):679-82. doi: 10.1016/j.kjms.2012.04.038. Epub 2012 Jul 28.

Abstract

In this report, we describe a Taiwanese (Han Chinese) family with Leber's hereditary optic neuropathy. The family carried a mitochondrial DNA mutation (mtDNA m.14484T>C) associated with spontaneous visual improvement. A 15-year-old boy from this family was diagnosed with Leber's hereditary optic neuropathy 6 months after losing his vision. His vision recovered after 8 months of supportive treatment. His mother, older brother, and two sisters also had the same mutation and had previously experienced vision loss. In this family, there was no male predominance.

摘要

在本报告中,我们描述了一个台湾(汉族)家族的莱伯遗传性视神经病变。该家族携带与自发性视力改善相关的线粒体 DNA 突变(mtDNA m.14484T>C)。该家族的一名 15 岁男孩在视力丧失 6 个月后被诊断为莱伯遗传性视神经病变。经过 8 个月的支持治疗后,他的视力恢复了。他的母亲、哥哥和两个姐姐也有同样的突变,之前也曾经历过视力丧失。在这个家族中,没有男性优势。

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