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[利贝尔先天性黄斑症的多态化和现代诊断方法]

I E Khatsenko1, E I Brodnitskaya2, S V Kuznetsova1,3

  • 1Morozov Children's Clinical Hospital, Moscow, Russia.

Vestnik oftalmologii
|November 21, 2024
PubMed
概括

勒伯先天性黄斑症 (LCA) 最常见的原因是CEP290 (LCA类型10) 和RPE65 (LCA类型2) 基因突变. 诊断测试显示了受影响患者的特征性视网膜变化.

关键词:
利伯的先天性黄斑症 (Leber congenital amaurosis) 是一种先天性黄斑症.电网红学 (electroretinography) 是一种电网红学 (electroretinography) 的方法,可以通过电网红学 (electroretinography) 进行测试.遗传学 遗传学 遗传学 是一个遗传视网膜疾病 遗传视网膜疾病遗传性视网膜发育不良.眼科 眼科 眼科视觉唤起了潜在的潜力.

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