PAX6 gene plays an important role on the embryological development through regulating cell proliferation, migration, differentiation and adhesion. This is supported by the fact that expression of PAX6 is dysregulated in several congenital diseases, especially in eye, nose, nerve system, pancreatic gland and endocrinologic system. In this review a general background of the PAX6 gene was summarized, and we also give a brief introduction of roles on genes up and down stream from PAX6 gene and its genetic mutation within eye development.