Mutation spectrum and genotype-phenotype correlations in Chinese congenital ectopia lentis patients

•As a rare but severe disease, the ophthalmic manifestations of CEL range broadly.•The majority of patients (84.9%) were identified with disease-causing mutations.•Most mutations were FBN1-associated (97.6%) and consisted of missense.•Missense mutations in FBN1 were more likely to lead to severe ocular phenotypes.