Finally, deletions of CYP26A1 (MIM 602239) and CYP26C1 (MIM 608428) have previously been implicated in both nonsyndromic bilateral and unilateral optic nerve aplasia [53], and mutations in UBE3B (MIM 608047) have been described in Kaufman Oculocerebrofacial Syndrome (MIM 244450) [54]. Here, CYP26A1 is linked to oculocerebrofacial syndrome, Kaufman type.