Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma.

ABSTRACT: The human eye is a complex organ whose development requires extraordinary coordination of developmental processes. The conservation of ocular developmental steps in vertebrates suggests possible common genetic mechanisms. Genetic diseases involving the eye represent a leading cause of blindness in children and adults. During the last decades, there has been an exponential increase in genetic studies of ocular disorders. In this review, we summarize current success in identification of genes responsible for microphthalmia, anophthalmia, and coloboma (MAC) phenotypes, which are associated with early defects in embryonic eye development. Studies in animal models for the orthologous genes identified overlapping phenotypes for most factors, confirming the conservation of their function in verte

SUBMITTER: Reis LM 

PROVIDER: S-EPMC5193115 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature