Whole‐Exome Sequencing Identifies Novel CPAMD8 Variants in Congenital Cataract and Candidate Variants in Pathologic Myopia

Abstract

To report CPAMD8 variants identified by whole‐exome sequencing (WES) in two Chinese families presenting with congenital cataract or pathologic myopia (PM) and to evaluate the evidence supporting their genotype–phenotype relationships.