The first indications of pathology regarding specific mutations in STRA6 was found in a genetic study of a family of Irish travelers with colobomatous microphthalmia (MCOPCB), a double-nucleotide polymorphism resulting in a missense mutation (G304K) within a critical sequence of STRA6 was found in all patients with MCOPCB [25]. This evidence concerns the gene STRA6 and microphthalmia, isolated, with coloboma.