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Updated: Jun 25, 2025

Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo
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线粒体甲基转移酶基因NSUN3的突变会导致遗传光神经病变

Cansu de Muijnck1,2, Jacoline B Ten Brink3, Hugoline G de Haan4,5

  • 1Department of Ophthalmology, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands.

Genes
|May 25, 2024
PubMed
概括

基因测试发现了一种新型基因NSUN3,与遗传性视觉神经病变 (IONs) 相关,这是视力丧失的罕见原因. 这一发现扩大了无法解释的ION患者的诊断能力.

关键词:
这是NSUN3的NSUN3.遗传性视神经病变是一种遗传性视神经病变.视力缩的光学缩

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