To determine the wider potential contribution of SALL2 mutations to the incidence of coloboma, the coding region of a further 178 patients with coloboma and associated anophthalmia/microphthalmia phenotypes were Sanger sequenced [comprising isolated coloboma (n = 49), colobomatous microphthalmia (n = 10), syndromic coloboma (n = 52), microphthalmia/anophthalmia (n = 67)]. Here, SALL2 is linked to microphthalmia.