PDF(Pubmed)
Abstract：
Inherited optic neuropathies affect around 1 in 10,000 people in England; in these conditions, vision is lost as retinal ganglion cells lose function or die (usually due to pathological variants in genes concerned with mitochondrial function). Emerging gene therapies for these conditions have emphasised the importance of early and expedient molecular diagnoses, particularly in the paediatric population. Here, we report our real-world clinical experience of such a population, exploring which children presented with the condition, how they were investigated and the time taken for a molecular diagnosis to be reached. A retrospective case-note review of paediatric inherited optic neuropathy patients (0-16 years) in the tertiary neuro-ophthalmology service at Moorfields Eye Hospital between 2016 and 2020 identified 19 patients. Their mean age was 9.3 ± 4.6 (mean ± SD) years at presentation; 68% were male, and 32% were female; and 26% had comorbidities, with diversity of ethnicity. Most patients had undergone genetic testing (95% (n = 18)), of whom 43% (n = 8) received a molecular diagnosis. On average, this took 54.8 ± 19.5 weeks from presentation. A cerebral MRI was performed in 70% (n = 14) and blood testing in 75% (n = 15) of patients as part of their workup. Continual improvement in the investigative pathways for inherited optic neuropathies will be paramount as novel therapeutics become available.
摘要：
遗传性视神经病变影响英格兰约1万人；在这些情况下，由于视网膜神经节细胞失去功能或死亡（通常是由于与线粒体功能有关的基因的病理变异），视力丧失。针对这些疾病的新兴基因疗法强调了早期和快速分子诊断的重要性，特别是在儿科人群中。这里,我们报告了这样一个人群的真实临床经验，探索哪些孩子出现了这种情况，它们是如何被调查的，以及达到分子诊断所需的时间。2016年至2020年期间，Moorfields眼科医院三级神经眼科服务的儿科遗传性视神经病变患者（0-16岁）的回顾性病例记录回顾确定了19例患者。他们的平均年龄为9.3±4.6（平均±SD）岁；68％为男性，32%是女性；26%有合并症，种族的多样性。大多数患者接受过基因检测（95％（n=18）），其中43%(n=8)接受了分子诊断。平均而言,这从演示开始花了54.8±19.5周。作为检查的一部分，对70％（n=14）的患者进行了脑MRI检查，对75％（n=15）的患者进行了血液检查。随着新的治疗方法的出现，遗传性视神经病变的研究途径的持续改进将是至关重要的。
