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晚发性视网膜退化:临床特征和C1QTNF5/CTRP5功能

Ana Alonso-Carriazo Fernández1, Amanda-Jayne F Carr2

  • 1UCL Institute of Ophthalmology, University College London, London, UK. ana.fernandez.18@ucl.ac.uk.

Advances in experimental medicine and biology
|February 10, 2025
PubMed
概括

晚发性视网膜退化 (L-ORD) 是一种罕见的遗传性眼睛疾病,由C1QTNF5基因突变引起. 本综述涵盖了L-ORD临床发现,管理和C1QTNF5基因.

关键词:
在C1QTNF5中.在CTRP5中使用.疾病建模 疾病建模遗传性视网膜病变是一种遗传性视网膜病变.晚期开始的视网膜退化.斑点缩症 斑点缩症 斑点缩症视网膜色素上皮质是视网膜色素上皮质.

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