继承性视网膜疾病中的Coats样血管病变:流行率,特征,遗传学和管理
Malena Daich Varela1, Giovanni Marco Conti2, Samantha Malka3
1Moorfields Eye Hospital, London, United Kingdom; UCL Institute of Ophthalmology, University College London, London, United Kingdom.
Ophthalmology
|August 6, 2023
概括
与遗传性视网膜疾病相关的Coats样血管病变 (CLV) 是一种罕见的疾病,影响着各种视网膜变. 早期视力敏度下降和排汗性视网膜脱落表明这种罕见疾病的预后较差.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 遗传学 是一个
- 视网膜疾病 视网膜疾病
背景情况:
- 卡茨样血管病变 (CLV) 是一种罕见的疾病.
- 这项研究描述了与遗传视网膜疾病 (IRD) 相关的CLV患者中最大的队列.
- 研究这一群体内的表型和遗传多样性.
研究的目的:
- 描述与IRD相关的CLV患者中最大,表型和基因最多样化的队列.
- 分析IRD相关的CLV中的临床特征,遗传基础和结果.
主要方法:
- 多中心回顾性队列研究.
- 涉及67名患有IRD相关的CLV的患者.
- 从两个国际中心的临床笔记,眼科成像和分子诊断中收集的数据.
主要成果:
- 与IRD相关的CLV的患病率为0.5%,最常见的是与视网膜色素炎 (RP) 相关.
- 诊断时的平均年龄为30.7岁;31%的人患有单边CLV.
- 在63%的眼睛中观察到排泄性视网膜脱落 (ERD);40%的基因测试患者的分子解决.
- 最终的视力明显恶化,60%的人失去了≥15个ETDRS字母;31%的视力进展到高级视力损伤.
结论:
- 与IRD相关的CLV很少见,通常是双边的,并且可以在各种IRD中发生.
- 开始通常是在第四个十年;没有观察到性别占主导地位.
- 预后不佳与初始视力敏度降低,ERD,广泛的CLV和CRB1-视网膜病变有关.
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