临床特征和长期视觉预后的家族外性玻璃红蛋白病变
Ratima Chokchaitanasin1, Kanruthai Trerayapiwat2, Wadakarn Wuthisiri2
1Department of Ophthalmology (R.C., K.T., W.W., D.R., T.S., T.T., B.T.), Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand; Ophthalmology Unit (R.C.), Wanonniwat Hospital, Sakon Nakhon, Thailand.
American journal of ophthalmology
|September 29, 2025
概括
亲属排泄性玻璃红蛋白病变 (FEVR) 通常呈现温和,大多数患者不需要治疗. 先进的FEVR阶段 (≥4) 与视力不佳有关,但像PPV+SO和PR这样的手术干预可以改善结果.
科学领域:
- 眼科医生 眼科 眼科
- 视网膜疾病 视网膜疾病
- 遗传学 遗传学 是一个
背景情况:
- 亲属排泄性视网膜病变 (FEVR) 是一种罕见的遗传性视网膜疾病.
- 它的特征是视网膜血管发育异常,导致排泄和潜在的视网膜脱落.
- 了解其临床谱和长期结果对于管理至关重要.
研究的目的:
- 为了研究FEVR的临床特征.
- 为了评估FEVR患者的长期视觉结果.
- 在FEVR中识别视觉预后的预测因素.
主要方法:
- 追溯46名被诊断患有FEVR的患者 (92只眼睛) 的病例系列.
- 收集的数据包括人口统计,临床特征,管理和视觉结果.
- 使用后勤回归分析来确定视觉结果的预测因素.
主要成果:
- 发病的中位数年龄为6.4个月. 分别在38.0%,13.0%,6.6%,26.1%和16.3%的眼睛中观察到FEVR第1-5阶段.
- 视网膜血管异常是最常见的发现 (55.4%). 大多数眼睛 (62.0%) 不需要治疗; 34.8% 进行了激光光凝,7.6% 接受了手术.
- 手术成功率为42.9%. 周围无血管视网膜与更好的结果有关,而盘/黄斑拖动和视网膜脱落预测了更糟糕的结果. 第4阶段的疾病独立预测视力差.
结论:
- FEVR通常表现为轻度疾病,需要保守的管理.
- 尽管接受了治疗,但高级FEVR阶段 (≥4) 与视觉预后不佳显著相关.
- 像油 (PPV+SO) 和气动视网膜脱落 (PR) 的帕斯普拉纳视切除术 (pars plana vitrectomy) 和气动视网膜脱落 (pneumatic retinopexy (PR)) 等手术选择在选择的病例中显示出实现解剖学附着的潜在益处.
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