Molecular Basis for the Development of Coloboma : A Review

Colobomas are congenital anomalies that cause pediatric blindness due to gaps between the corneas and optic nerves. They are typically characterized by inferior or ventral origins and can cause vision loss. During embryonic development, PAX6 belongs to a family of genes that play critical roles in tissue and organ development. PAX protein apparently activates centralized genes that play a role in the development of the eyes, spinal cord, brain, and pancreas during embryonic development. PAX6 protein controls many aspects of eye development before and after birth. Many structures of the eye are likely affected by the PAX6 protein, which regulates the expression of various genes.