Additionally, rare cases of non-syndromic coloboma have also been identified in patients with recessive mutations of VSX2 (formerly CHX10; OMIM 142993) (23) and ABCB6 (OMIM 605452) (24) more frequently associated with microphthalmia, dominant mutations of PAX6 (OMIM 607108) generally associated with a range of ocular defects including aniridia, and MAF (OMIM 610210) (cataract and anterior segment dysgenesis) (23–26). The gene discussed is PAX6; the disease is coloboma.