遗传性视神经病变:儿童神经眼科诊所的现实世界经验
Michael James Gilhooley1,2, Naz Raoof1,2,3, Patrick Yu-Wai-Man1,2,4,5
1Institute of Ophthalmology, University College London, 11 Bath Street, London EC1V 9EL, UK.
Genes
|February 24, 2024
概括
诊断儿童遗传性视神经病变对于新兴的基因疗法至关重要. 儿科患者的分子诊断平均需要54.8周,这凸显了需要更快速的调查途径.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 是一个遗传学.
- 神经科学是一个神经科学.
背景情况:
- 遗传性视神经病变 (IONs) 影响1万人中的1人,导致视力丧失,原因是视网膜质细胞功能障碍.
- 病理基因变异,通常是线粒体,是IONs的基础,使得早期的分子诊断对于新兴的基因疗法至关重要,特别是在儿童中.
研究的目的:
- 评估在现实环境中诊断儿科ION的临床经验.
- 探索患者的人口统计,调查方法,以及IONs儿童分子诊断的时间.
主要方法:
- 在穆尔菲尔德眼科医院 (2016-2020年) 对19名儿科ION患者 (0-16岁) 的回顾性病例笔记审查.
- 呈现年龄,性别,并发症,种族,遗传检测,脑MRI和血液检测的分析.
主要成果:
- 呈现时的平均年龄为9.3岁;68%是男性. 95%的人接受了基因检测,43%的人接受了分子诊断.
- 分子诊断的平均时间为54.8周. 大脑MRI和血液测试是常见的调查.
结论:
- 目前儿童ION的诊断时间表很长,可能会推迟获得新型基因疗法.
- 改善ION的调查途径对于加速儿童分子诊断至关重要,因为治疗方法进步.
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