Molecular Genetics of Congenital and Juvenile Glaucoma

Abstract

Glaucoma refers to a heterogeneous group of optic neuropathies with a complex genetic basis. Glaucoma is also the ‘silent thief of sight’ since half of affected individuals are unaware of having glaucoma due to lack of symptoms. Juvenile glaucoma and congenital glaucoma (CG) are two major subtypes of glaucoma. As the names suggest, both CG and juvenile glaucoma have an early age of onset and more severe phenotype than the adult-onset form. Significant progress has been made in past few years in molecular genetic studies of juvenile glaucoma and CG. Myocilin ( MYOC ) and Cytochrome P4501B1 ( CYP1B1 ) have been discovered, initially as causal candidate genes for juvenile glaucoma and CG, respectively. Later, however, the involvement of CYP1B1 in juvenile glaucoma and MYOC in CG placed juvenile glaucoma and CG as part of a broader disease spectrum. While mutations in a single gene can be causal to juvenile glaucoma or CG, simultaneous mutations of several genes can also be causal to these forms of glaucoma. In this article, we present the recent progress made in molecular genetic studies of juvenile glaucoma and CG and describe the underlying complexities between these forms of glaucoma.