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309名连续患有遗传视网膜疾病的儿科患者的表型和遗传谱
Claudia S Priglinger1, Maximilian J Gerhardt1, Siegfried G Priglinger1
1Department of Ophthalmology, University Hospital, Ludwig-Maximilians-University, 80336 Munich, Germany.
International journal of molecular sciences
|November 27, 2024
概括
遗传性视网膜发育不良 (IRDs) 在儿童中呈现不同,在学龄前和学龄组之间存在不同的遗传原因和症状. 早期的眼科查可以帮助预症状诊断和治疗这些危及视力的疾病.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
背景情况:
- 遗传性视网膜发育不良 (IRDs) 是儿童失明和视力损伤的重要原因.
- IRD可以表现为有或没有系统性疾病,使诊断和管理复杂化.
- 了解特定年龄的表型和基因型谱对于早期干预至关重要.
研究的目的:
- 在儿科队列中划分IRD的表型和基因型特征.
- 为了比较学龄前儿童和学龄儿童之间的IRD频谱.
- 识别与不同年龄组相关的关键基因和临床表现.
主要方法:
- 对309名疑似IRD的儿科患者进行了回顾性,单中心的横截面分析.
- 评估出现的症状,临床表型和分子遗传诊断.
- 根据基因诊断时的年龄分组患者:学龄前儿童 (0-6岁) 和学龄儿童 (7-17岁).
主要成果:
- 幼儿园儿童呈现的阴影,缺乏视觉兴趣,或近视;学龄儿童的视力敏度下降,近视,或高近视.
- 在96个基因中确定了致病变体,在各个年龄组中分布不同.
- 在这两组中,乳病是最常见的综合征性IRD,在每个年龄段都占主导地位的特定基因变异.
- 在学龄前儿童中,Leber的先天性青毛病和静止性IRD是常见的,而在学龄儿童中,主导的疾病是常见的.
结论:
- 在学龄前儿童和学龄儿童之间,IRDs的基因型和表型谱显著不同.
- 综合征性和非综合征性IRD在幼儿时代发生的比例几乎相等.
- 在学龄前和学龄阶段进行眼科查对于早期诊断和对视力威胁的疾病和潜在的全身后果的管理至关重要.
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