Int Ophthalmol Clin. 2021 Jul 1;61(3):113-130. doi: 10.1097/IIO.0000000000000368.
Inherited retinal diseases (IRDs) are an important cause of blindness worldwide. Over 270 genes have been associated with IRD. Genetic testing can determine the cause of the clinical disease in the majority of patients. However, at least 25-50% of patients with clinical diagnosis of IRD remain unsolved even after whole genome sequencing. Animal models of IRD can be useful for expanding the set of established IRD genes, to gain biological understanding of the function of these genes in the retina, and to test advanced therapeutics prior to human clinical trials. In this chapter some small and large animal models of IRD are discussed including some of the advantages and limitations of each for various forms of retinopathy.
遗传性视网膜疾病(IRDs)是全球范围内导致失明的一个重要原因。超过 270 个基因与 IRD 相关。基因检测可以确定大多数患者临床疾病的病因。然而,即使进行全基因组测序,仍有至少 25-50%的具有临床诊断的 IRD 患者无法明确病因。IRD 的动物模型可用于扩展已建立的 IRD 基因集,深入了解这些基因在视网膜中的功能,并在进行人体临床试验之前测试先进的治疗方法。在本章中,讨论了一些 IRD 的小型和大型动物模型,包括每种模型在各种形式的视网膜病变中的优缺点。