The closest reported missense variant to AN1 c.781C>T, p.(Arg261∗) located in exon 10 (predicted homeodomain) was c.773T>C, p.(Phe258Ser); the patient presented with typical iris hypoplasia and chorioretinal coloboma involving the optic disc, but indeed no description of ARK.48 Here, PAX6 is linked to Chorioretinal coloboma.