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.
