title: 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 vertebrate development. These animal models allow for further investigation of the mechanisms of MAC, integration of various identified genes into common developmental pathways and finally, provide an avenue for the development and testing of therapeutic interventions.
authors.affiliation: Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin, Milwaukee, Wisconsin.
authors.forename: Linda M
authors.initials: LM
authors.lastname: Reis
authors.affiliation: Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin, Milwaukee, Wisconsin.|Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, Wisconsin.|Department of Cell Biology Neurobiology, and Anatomy, Medical College of Wisconsin, Milwaukee, Wisconsin.
authors.forename: Elena V
authors.initials: EV
authors.lastname: Semina
mesh_terms: D000328:Adult; D000853:Anophthalmos / Q000235:genetics*; D003103:Coloboma / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D005786:Gene Expression Regulation; D008040:Genetic Linkage; D006801:Humans; D008850:Microphthalmos / Q000235:genetics*; D015398:Signal Transduction / Q000235:genetics*
chemical_list: D005136:Eye Proteins
keywords: animal models; anophthalmia; coloboma; eye development; genetics; microphthalmia