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视神经头部在骨突症中的形态变异:一项队列研究
Sohaib R Rufai1, Mervyn G Thomas2, Oliver R Marmoy3
1From the Clinical and Academic Department of Ophthalmology (S.R.R., O.R.M., V.P., D.A.T., R.H. H., S.G., R.B.), Great Ormond Street Hospital for Children NHS Foundation Trust and UCL Great Ormond Street Institute of Child Health, London, UK; Craniofacial Unit, Great Ormond Street Hospital for Children NHS Foundation Trust and UCL Great Ormond Street Institute of Child Health (S.R.R., G.J., D.J.D., R.H., N.u.O.J.), London, UK; The University of Leicester Ulverscroft Eye Unit, Leicester Royal Infirmary (S.R.R., M.G.T., I.G., F.A.P.), Leicester, UK.
患有骨突症的儿童表现出明显的视神经头部 (ONH) 形态,特别是那些患有FGFR1/2相关综合征的儿童. 这些发现有助于眼科监测和骨突症的手术规划.
科学领域:
- 眼科医生 眼科 眼科
- 儿科神经学 儿科神经学
- 医疗成像医学成像
背景情况:
- 头骨突症是一种涉及头骨部过早融合的疾病,可能会影响内压力和神经发育.
- 视神经头部 (ONH) 形态可能会在患有骨突症的儿童中发生变化,需要详细的眼科评估.
- 了解这些形态变化对于管理潜在的视觉并发症至关重要.
研究的目的:
- 为了比较视神经头部 (ONH) 形态学,在儿童和健康的对照.
- 为了识别与关突症相关的特定ONH结构差异,包括综合症形式.
- 提供可能为眼科监测和外科干预提供信息的数据.
主要方法:
- 一项前性队列研究,涉及58名儿童 (年龄为0-13岁) 患有鼻,使用手持光学连贯断层扫描 (OCT).
- 纳入标准侧重于稳定的头内压,并从已公布的规范数据集 (218只眼睛) 中进行控制.
- 关键结果措施包括磁盘宽度,杯宽度,边框宽度和视网膜神经纤维层厚度,通过回归模型进行分析,比较综合征,非综合征突变和对照.
主要成果:
- 与对照人群相比,患有骨突症的儿童表现出明显更大的圆盘宽度 (6%),更大的边缘宽度 (16%),以及较薄的时视网膜神经纤维层 (11%).
- 纤维细胞生长因子受体 (FGFR) 1/2-关联综合征 (Crouzon,Apert,Pfeiffer) 与非FGFR头骨缩症病例相比,显示出较小的圆盘宽度 (10%) 和时间杯宽度 (38%).
- 手持式OCT成像在92%的符合条件的儿童中取得了成功.
结论:
- 在患有骨突症的儿童中,ONH存在显著的形态差异,特别明显在FGFR1/2相关综合征中.
- 这些ONH变异可能会影响眼科监测策略和手术决策.
- 建议对综合征性和非综合征性关突症的ONH变化进行进一步的纵向研究.
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