CTNNB1 and Familial exudative vitreoretinopathy: Recently, germline loss-of-function pathogenic variants in CTNNB1 have been reported to cause neurodevelopmental disorders with spastic diplegia and visual defects (NEDSDV, MIM# 615075) (4), and familial exudative vitreoretinopathy (MIM# 617572) (5).