Primary congenital glaucoma — molecular mechanisms — genetics

Abstract

Introduction. Primary congenital glaucoma (GCP) is an eye condition caused by the abnormal development of aqueous humor drainage structures, characterized by increased intraocular pressure, enlargement of the eyeball. Material and methods. This study was based on the synthesis and analysis of literature from open access databases: Pubmed, Scopus; GoogleSchoolar, Hinari. corneal edema and changes of the optic nerve. Results. Genetic mapping of affected gene families has identified several chromosomal loci that cause primary congenital glaucoma: GLC3A (chromosome 2p22), GLC3B (chromosome 1p36.2 􀀟� p36.1), GLC3C (chromosome 14q24.3), GLC3D (chromosome 14q24.2-q24.3) and GLC3E (chromosome 9p21.2). Mutations have also been identified in the LTBP2 (14q24.3) genes encoding the latent 􀀟� transforming growth factor 2 beta 􀀟� binding and MYOC (14q23 􀀟� q24) encoding the myocillin protein for role in cytoskeleton organization and cell adhesion, TEK (tyrosine kinase receptor ), COL1A1. Mutations in the CYP1B1 gene (missens, insertions and/or,del) encoding the P450 protein with a role in the metabolism of endogenous molecules necessary for ocular development leading to autosomal recessive GCP have been shown to be a strong risk factor. Conclusions. Primary congenital glaucoma is a genetic disease caused by mutations in different genes (GLC3A, GLC3B, GLC3C, GLC3D, GLC3E, LTBP2, MYOC, TEK, COL1A1, CYP1B1) and population screening through genetic testing can reduce the incidence of the disease and can be helpful to clinicians for a personalized approach to treatment.