Anterior segment dysgenesis (ASD) disorders can involve multiple ocular tissues, such as the iris, cornea and lens. Depending on the clinical presentation, these disorders can often be classified into different subtypes. Several subtype examples include Peters’ anomaly, which is identified by central corneal opacity and defects of Descemet’s membrane and corneal endothelium; posterior embryotoxon, which involves a thickening and opacity at Schwalbe’s ring; and aphakia, which is defined by the absence of the ocular lens. Mutations in the FOXE3 gene have been associated with a variety of anterior segment dysgenesis disorders including those previously mentioned and others such as congenital cataracts, sclerocornea and coloboma. In addition, FOXE3 mutations have also been observed in non-syndromic microphthalmia. Although FOXE3 disorders can be inherited in either an autosomal dominant or recessive pattern, the disease presentation is typically more severe in individuals who are homozygous or compound heterozygotes for recessively-inherited mutations.