摘要
Inherited retinal degeneration(IRD)is a group of disorders characterized by progressive loss of retinal photoreceptor cells;it affects vision and eventually results in incurable blindness[1].Genetic factors play a major pathogenic role in IRD,as hundreds of mutated genes are linked to these diseases.The complexity and diversity of genetic variations in these diseases impede the development tof therapeutic strategiesfor retinal degeneration[1].Mutations in the crumbs homolog 1(CRB1)genearee known tocause severe retinal degeneration,which may present as retinitis pigmentosa(RP),Leber congenital amaurosis(LCA),macular dystrophy,or early-onsettsevere retinal dystrophy.Globally,CRB1 mutations account for 7%-17%LCA cases and approximately 4%RP cases[2,3].Therefore,strategies targeting CRBI-related retinal degenerations may help alleviate the burden of blindness such as LCA and RP.
基金
supported by the grants from the National Natural Science Foundation of China(No.82300522)
Hubei Provincial Natural Science Foundation of China(No.2023AFB043)
Undergraduate Research and Innovation Project of University of South China(Nos.X202310555117 and S202410555041).
