在早产不典型视网膜病变的潜在疾病
Natasha F S da Cruz1, Julia L Hudson2, Jesse D Sengillo2
1Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, United States; Department of Ophthalmology, Federal University of São Paulo, Escola Paulista de Medicina, São Paulo, Brazil; Centro Ocular, Belém, Brazil.
American journal of ophthalmology
|February 26, 2025
概括
过早性视网膜病变 (ROP) 可以与家族外泄性视网膜病变 (FEVR) 和端粒生物学障碍 (TBD) 重叠. 新的分类,ROPER和ROPMERE,有助于识别和管理这些频谱疾病.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
背景情况:
- 过早性视网膜病变 (ROP),家族排泄性视网膜病变 (FEVR) 和端粒生物学障碍 (TBD) 通常是不同的诊断.
- 新兴的遗传数据和成像表明,一个潜在的频谱将ROP与FEVR或TBD联系起来.
研究的目的:
- 调查ROP,FEVR和TBD之间的重叠情况.
- 为呈现ROP和FEVR/TBD特征的患者提出新的分类.
主要方法:
- 对表型ROP.患者的回顾性病例系列分析.
- 从儿科视网膜服务的文献综述和医疗记录分析.
- 在确定的患者中,FEVR或TBD的遗传确认.
主要成果:
- 确定了18名基因确诊FEVR或TBD的患者,最初被诊断为ROP.
- 大多数最终被诊断为FEVR (78.9%) 或TBD (21.1%).
- 常见的遗传变异包括FEVR中的LRP5和FZD4,以及TBD中的CTC1.
结论:
- 这项研究加强了ROPER (ROP和FEVR) 的分类.
- 引入ROPMERE (ROP和TBD) 来分类这些重叠的条件.
- 便于对患有这些频谱疾病的婴儿进行持续监测.
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