Sirtuin 3 突变诱导的线粒体功能障碍和视神经病变：一例报告。
Sirtuin 3 mutation- induced mitochondrial dysfunction and optic neuropathy: a case report.
机构信息
Department of Ophthalmology, School of Medicine, Kyungpook National University, Daegu, Korea.
Brain Science & Engineering Institute, School of Medicine, Kyungpook National University, 680 Gukchaebosang Street, 700-422, Daegu, South Korea.
出版信息
BMC Ophthalmol. 2023 Mar 24;23(1):118. doi: 10.1186/s12886-023-02872-x.
BACKGROUND
Mitochondrial optic neuropathy is characterized by painless, progressive, symmetrical central vision loss, and dyschromatopsia owing to mitochondrial dysfunction. This report documents a rare case of mitochondrial optic neuropathy due to the SIRT3 gene mutation.
CASE PRESENTATION
This report describes a case of a 17-year-old boy who presented with symptoms of bilateral painless, progressive vision decline over several years. Fundus examination revealed temporal pallor of the optic nerve head in both the eyes and an OCT showed considerable thinning of the retinal nerve fiber and ganglion cell layers. Pathogenicity was confirmed by decreased mitochondrial function measured by bioenergetic health index and oxygen consumption rate in this patient. Subsequent NGS revealed a missense mutation of the SIRT3 gene (c.1137G > C, p.Trp379Cys) in the patient.
CONCLUSIONS
This case describes the clinical manifestation of mitochondrial optic neuropathy due to the SIRT3 gene mutation.
背景
线粒体视神经病变的特征是无痛性、进行性、对称性中心视力丧失和色觉障碍，这是由于线粒体功能障碍引起的。本报告记录了一例由于 SIRT3 基因突变导致的线粒体视神经病变的罕见病例。
病例介绍
本报告描述了一例 17 岁男孩的病例，他表现为双侧无痛性、进行性视力下降数年。眼底检查显示双眼视神经颞侧苍白，OCT 显示视网膜神经纤维和节细胞层明显变薄。通过生物能量健康指数和耗氧量测量，证实该患者线粒体功能下降，致病性得到确认。随后的 NGS 显示 SIRT3 基因（c.1137G>C，p.Trp379Cys）发生错义突变。
结论
本病例描述了 SIRT3 基因突变导致的线粒体视神经病变的临床表现。
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