These findings are concordant with the broad spectrum of ocular malformations in RA embryopathy such as microphthalmia, optic nerve hypoplasia and coloboma in a similar way as pathogenic variants in STRA6 (MIM*610745) or RARB (MIM*180220) genes, both of which are responsible of dysregulation in the RA pathway and therefore involved in syndromic microphthalmia (i.e., PDAC). Here, RARB is linked to Autosomal dominant optic atrophy, classic type.