CHD7 is the gene that codes for the chromodomain helicase DNA binding protein 7 and variants found in the AD form were first reported as the genetic cause in a series of patients with CHARGE (coloboma, heart defect, atresia choanae, growth retardation, genital abnormality, and ear abnormality) syndrome (57, 120). This evidence concerns the gene CHD7 and coloboma.