A diversity of retinal degenerations has been reported to be associated with biallelic variants in CRB1, the signature findings of CRB1 and the potential genotype-phenotype correlation have yet to be clarified. As preclinical research progresses, understanding the unique features of the CRB1 gene is crucial. Our multicenter retrospective cohort study summarizes comprehensive genotypic and phenotypic characteristics and genotype-phenotype correlations of patients with different CRB1 mutation types. These key clinical signatures can aid in early diagnosis and management, and can facilitate phenotypic guidance and enhance the cost-effectiveness and accessibility of genetic testing methods. (By Drs. Feng-Juan Gao, Mo-Ying Wang, and Xin Huang, https://jmg.bmj.com/content/early/2024/11/04/jmg-2024-110289 )

The research group from Eye & ENT Hospital of Fudan University