Affected individuals in this family carry a 22 kb heterozygous deletion that encompasses terminal exons 14-17 of CRIM1 as well as most of the 3′-UTR of an adjacent gene, FEZ2. The human MACOM phenotype might reflect the effect of CRIM1 loss-of-function or, since Fez2 is expressed in mouse E11.5 and E12.5 lens according to the ocular lens gene discovery tool iSyTE (Lachke et al., 2012) and potentially in other ocular tissues, the combined effects of CRIM1 and FEZ2 loss-of-function. This evidence concerns the gene CRIM1 and colobomatous macrophthalmia-microcornea syndrome.