遗传性眼病遗传咨询和检测的重要性:基于人口的回顾性研究
Michal Kaminer Abargel1, Michal Macarov2, Karen Hendler2
1Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
PloS one
|February 13, 2025
概括
这项研究分析了228名患者遗传性眼病 (IED) 的遗传原因. 遗传性视网膜疾病和白化最常见,经常发现TYR和OCA2基因.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 是一个遗传学.
- 医学研究 医学研究
背景情况:
- 在全球范围内,遗传性眼病 (IED) 是儿童视力障碍和失明的主要原因.
- 了解IED的遗传基础和患病率对于有效的诊断和管理至关重要.
研究的目的:
- 描述在特定人群中常见的IED及其致病基因的流行和分布.
- 为了确定寻求IED遗传咨询的患者中最频繁涉及的基因.
主要方法:
- 从2018年至2020年期间接受IED遗传咨询的228名患者的医疗记录的回顾分析.
- 收集的数据包括诊断,基因变异,遗传方式,年龄,性别和种族.
主要成果:
- 遗传视网膜疾病 (IRD) 和白化是最常见的诊断,分别占41.2%和32%的病例.
- 致病变种检测率为65.3%. 最常被发现的致病基因是TYR (29.2%),OCA2 (7.9%),ABCA4 (5.3%),TRPM1 (5.3%) 和USH2A (4.4%).
- 到2020年,寻求遗传咨询的患者人数显著增加.
结论:
- 基因咨询和检测是管理IEDs的重要组成部分.
- 在穆斯林人口中,IRD更为常见,而在犹太人口中,白化占主导地位.
- 在这个群体中,TYR和OCA2是与IED相关的关键基因,这凸显了对这些疾病的基因测试的重要性.
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