作为系统性遗传异常的临床指标,点点性
Daphna Landau-Prat1,2,3,4,5, Rayna Marshall1,2, Alanna Strong6
1Division of Ophthalmology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Seminars in ophthalmology
|April 22, 2024
概括
点性缩或发育 (PA) 影响了43%的全身综合征患者,包括罕见的遗传疾病. 对于患有眼外疾病的PA患者,建议进行全面的病史和基因检查.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
背景情况:
- 点点性缩或发育 (PA) 是眼通道点点的罕见先天性异常.
- 它与系统性遗传异常的关联需要进一步调查.
- 仅基于PA进行基因检测的必要性是不确定的.
研究的目的:
- 研究PA患者的全身综合征的患病率和类型.
- 确定PA患者基因检查的必要性.
主要方法:
- 对被诊断患有PA的患者病历的回顾性审查 (2009-2023年).
- 分析患者病史和遗传检测结果.
- 系统异常和相关遗传综合征的评估.
主要成果:
- 44名PA患者中有43% (3.3 ± 3.3年;70%男性) 患有系统异常或遗传综合征.
- 皮内膜发育不良和唐氏综合征是最常见的;新的关联包括Branchio-oto-renal综合征,22q11.2删除综合征等.
- 系统性异常与性别,双边性或涉及的点数之间没有发现显著的关联.
结论:
- 在PA患者中观察到系统性综合征的高发病率 (43%).
- 对于患有眼外疾病的PA患者,建议进行系统性评估和基因检查.
- 综合病史和全身检查对PA患者至关重要,因为它可能与各种综合征有关.
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