眼睛的发现是SMAD3变种最引人注目的表现
Noémie Villeneuve-Cloutier1,2, Christie A Boswell-Patterson3, Lucas Bronicki1,4
1Department of Medical Genetics, CHEO, Ottawa, Ontario, Canada.
American journal of medical genetics. Part A
|June 4, 2025
概括
洛伊斯-迪茨综合征 (LDS) 可以导致严重的眼睛问题,包括高近视和白内障,即使有轻微的动脉问题. 对SMAD3变异的基因测试对于诊断LDS至关重要,特别是在早期高度近视患者中.
科学领域:
- 遗传学 是一个遗传学.
- 眼科医生 眼科 眼科
- 心脏病学 心脏病学
背景情况:
- 洛伊斯-迪茨综合征 (LDS) 是一种具有多种症状的遗传性结缔组织疾病.
- 在LDS的眼部表现不是很好地记录,尽管重叠与其他连接组织疾病,如马尔凡综合征.
研究的目的:
- 在一个具有SMAD3变体和LDS的个体中描述眼睛表型.
- 强调在早期高度近视的遗传小组中考虑SMAD3的重要性.
主要方法:
- 临床检查和广泛的血管成像.
- 对遗传性结缔组织疾病进行分子基因面板测试.
主要成果:
- 试验对象呈现出严重的早期近视 (-25D),白内障,食otropia,视网膜出血,绿内障,后部树脂瘤,和肉结膜炎 sicca.
- 血管成像显示了动脉解剖和轻微的动脉曲.
- 确定了一个可能的致病性异合体SMAD3变体 (c.221G>T; p.
结论:
- 高度近视,早发性白内障和绿内障是与SMAD3变异相关的LDS表型谱的一部分.
- 应将SMAD3纳入早期高度近视患者的基因测试小组.
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