与CTNNB1综合征无症状儿童的玻璃色素病变
Emma C Bedoukian1,2, Grace Forbes2, Drew Scoles2,3
1Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
JAMA ophthalmology
|August 15, 2024
概括
在CTNNB1综合征中,家族排泄性玻璃红蛋白病变 (FEVR) 和是常见的. 超广场光体血管学可以检测视力威胁的FEVR,而不是在标准检查中看到的.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 遗传学 是一个
- 儿科医学 儿科医学
背景情况:
- 已在CTNNB1综合征患者中鉴定出具有严重眼睛表型的家族性排泄性玻璃红蛋白病变 (FEVR).
- 在这些患者中,标准眼镜检查可能无法检测到危及视力的玻璃视网膜病变的所有病例.
研究的目的:
- 报告一系列11名患有CTNNB1变体和以前正常的眼镜镜的患者.
- 详细介绍这些患者的眼科表型.
主要方法:
- 11名患有CTNNB1变异的患者的回顾性病例系列.
- 患者在麻醉下接受检查,并使用光素血管造影.
- 进行了基因型分析,以评估变体与FEVR严重程度的关联.
主要成果:
- 11名患者中有5名 (9名眼睛) 患有FEVR,其中6名眼睛需要治疗,其中包括一个视网膜脱落.
- 在9名患者中诊断出,其中5人接受了手术.
- 没有发现FEVR严重程度的明确基因型-表型相关性.
结论:
- 几乎所有CTNNB1综合征患者都需要因折射误差和眼而接受眼科护理.
- 一部分患者需要为FEVR接受治疗.
- 对CTNNB1综合征患者建议进行超广场光素血管造影,如果办公室检查不足,则可能处于镇静状态.
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