中国遗传性视网膜疾病的负担和特征
Yuqing Lin1, Xiyang Dou1, Lihong Li1
1Eye Center, Renmin Hospital of Wuhan University, Wuhan, 430060, Hubei, China.
Scientific reports
|September 24, 2025
概括
遗传性视网膜疾病 (IRDs) 对中国的患者产生重大影响,导致视力障碍和相当大的心理社会和财务负担. 应对这些挑战需要提高对受影响个人的意识和政策支持.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 遗传学 是一个
- 公共卫生 公共卫生
背景情况:
- 遗传性眼睛疾病,特别是遗传性视网膜疾病 (IRD),是全球视力丧失的重要原因.
- 在中国,IRD的实际影响和患者体验尚未得到充分证实.
研究的目的:
- 调查中国IRD患者的社会人口特征,临床负担和生活质量.
- 识别最常见的亚型,症状和相关的心理社会和经济挑战.
主要方法:
- 一项使用在线和纸质问卷的国家跨部门调查.
- 通过医院和患者组织从1219名参与者收集的数据.
- 包括人口统计,临床病史,遗传检测,症状和社会经济影响.
主要成果:
- 皮质视网膜炎 (RP) 是最常见的IRD (49.08%),近一半在学龄前出现.
- 夜盲和视野收缩是普遍的症状;白内障影响18.21%.
- 患者报告中度至高程度的心理社会负担 (平均得分>6/10) 和严重的财务压力 (57.51%的年收入低于10万元人民币).
结论:
- 遗传性眼睛疾病给中国患者带来了相当大的负担,影响了日常功能,心理健康和社会经济地位.
- 迫切需要提高公众意识,政策干预,并为中国的IRD提供可访问的治疗方法.
- 调查结果强调了支持这些服务不足的人群的关键需求,这些人面临着严重的医疗保健和财务障碍.
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