CTNNB1 and congenital vitreoretinal dysplasia: Herein, we report the first biallelic mutation in CTNNB1 identified by whole exome sequencing (WES) in a proband with a severe syndromic FEVR-like phenotype of microphthalmia, persistent foetal vasculature, posterior lens vacuoles, and vitreoretinal dysplasia, with extra-ocular features of microcephaly, hypotelorism and global developmental delay.