在家庭中长期的功能和临床疗法 试探性视视网膜病变
Hongan Chen1, Anne Strong Caldwell1, Jennifer L Patnaik1
1Department of Ophthalmology, Sue Anschutz-Rodgers Eye Center, University of Colorado School of Medicine, Aurora, Colorado.
Retina (Philadelphia, Pa.)
|December 23, 2024
概括
亲属排泄性玻璃红蛋白病患者表现出良好的长期视力. 大多数患者保持了功能和门诊视力,全球救援率很高.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 遗传学 是一个
背景情况:
- 亲属排泄性玻璃内膜病变 (FEVR) 是一种罕见的遗传疾病,影响视网膜血管发育.
- 了解长期结果对于患者管理和遗传咨询至关重要.
研究的目的:
- 在被诊断患有家族排泄性玻璃红蛋白病变 (FEVR) 的患者中描述长期的功能和解剖结果.
主要方法:
- 从2003年1月到2024年1月,对FEVR患者的回顾性图表审查.
- 收集的数据包括人口统计,临床发现和视觉敏度.
- 功能视力定义为斯内伦视力敏度≥20/40; 门诊视力为≥20/200.
主要成果:
- 96名患者 (186只眼睛) 发现FEVR;分析了46名患者 (90只眼睛).
- 平均随访时间为9.1年.
- 77.3%的人获得了功能视力,88.6%的人获得了门诊视力.
- 全球救援率为98.4%.
- 呈现时视网膜脱落与视力恶化有关.
结论:
- FEVR患者表现出有利的长期视觉结果.
- 超过75%的人实现了功能视力 (≥20/40).
- 近89%的人避免了法律失明 (≥20/200).
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