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Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma. Birth Defects Res C Embryo Today 2015 Jun;105(2):96-113

Date

06/06/2015

Pubmed ID

26046913

Pubmed Central ID

PMC5193115

DOI

10.1002/bdrc.21097

Scopus ID

2-s2.0-84933179773 (requires institutional sign-in at Scopus site)   58 Citations

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.

Author List

Reis LM, Semina EV

Author

Elena V. Semina PhD Chief, Professor in the Ophthalmology and Visual Sciences department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Adult
Anophthalmos
Coloboma
Eye Proteins
Gene Expression Regulation
Genetic Linkage
Humans
Microphthalmos
Signal Transduction