在43名KBG综合征患者的队列中,眼部表现
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Updated: Jul 11, 2025

05:22
Iris Fixation via External Pentagram Suturing
Published on: May 5, 2022
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Drake C Carter1, Ola Kierzkowska1, Kathleen Sarino1
1Department of Human Genetics, NYS Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA.
American journal of medical genetics. Part A
|November 15, 2023
概括
眼科疾病如眼和折射错误在KBG综合征患者中比以前认为的更为常见. 对这些视觉问题的早期查和干预可以显著改善患者的结果.
科学领域:
- 遗传学 遗传学 是一个
- 眼科医生 眼科 眼科
- 儿科医学 儿科医学
背景情况:
- 凯伯格综合征的特点是牙,发育,智力,骨和面异常.
- 在KBG综合征患者中,眼科疾病往往没有得到充分报告.
- 对于ANKRD11变体或16q24.3缺失在视觉系统发育中的作用尚不清楚.
研究的目的:
- 为了确定KBG综合征患者特定眼科疾病的患病率.
- 将这些流行率与现有文献进行比较.
- 突出眼科查在KBG综合征管理中的重要性.
主要方法:
- 招募了43名KBG综合征患者的队列.
- 通过虚拟采访收集病史,并通过医疗记录进行验证.
- 在40名参与者中,有确定的致病变体,计算了,,近视和高视的患病率.
主要成果:
- 在22.5%的参与者中报告了视.
- 据报道,,近视和近视差分别发生在27.5%,15.0%和20.0%的人群中.
- 斜视和折射误差的患病率似乎高于其他研究报告的.
结论:
- 眼科疾病,特别是眼和折射错误,在KBG综合征中很普遍.
- 需要进一步的研究来确定ANKRD11变体与视觉系统异常之间的联系.
- 建议对KBG综合征患者进行例行眼科查,以改善生活质量.
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