The Genetics of Primary Open Angle Glaucoma Interventions: Therapeutic Directions and Future Predictions
Benedict C. Umezurike
*
Department of Optometry, Faculty of Allied Health Sciences, Gregory University, Uturu, Abia State, Nigeria.
Moses O. Akhimien
State Team Lead, African Field Epidemiology Network, AFENET/NSTOP, Gusau Field Office, Commissioners quarter, Gusau, Zamfara State, Nigeria.
Chidinma Chukwuka
Department of Optometry, Faculty of Allied Health Sciences, Gregory University, Uturu, Abia State, Nigeria.
Thaedus Ejike
Department of Optometry, Faculty of Allied Health Sciences, Gregory University, Uturu, Abia State, Nigeria.
Louis Ugwulor
Department of Public Health, Faculty of Allied Health Sciences, Gregory University, Uturu, Abia State, Nigeria.
Bright Ajoku
Department of Public Health, Faculty of Allied Health Sciences, Gregory University, Uturu, Abia State, Nigeria.
Solomon N. Ijioma
Department of Human Physiology, Micheal Okpara University of Agriculture, Umudike, Umuahia, Nigeria.
*Author to whom correspondence should be addressed.
Abstract
The “multifactorial chronic optic neuropathy” known as primary open angle glaucoma (POAG) is typified by a “progressive loss of retinal ganglion cells (RGC), structural damage to the retinal nerve fiber layer (RNFL) and optic nerve head (ONH), as well as abnormalities in the visual field.” High intraocular pressure (IOP), age, genetics, family history, race, etc. are the main risk factors. One of the pathological implications of POAG is “pressure-induced” ONH damage, which results in modifications to the expression of retinal genes. The ensuing fluid backup raises IOP, which damages optic nerve and results in POAG. Numerous susceptibility genes and environmental factors contribute to the “genetic heterogeneity” of POAG, according to genetic studies. “A set of twelve chromosomal loci, referred to as GLC1A through GLC1L, have been mapped for POAG. Three genes—myocilin (MYOC), optic neuropathy-inducing protein (Optineurin, OPTN)), and WD repeat domain 36 (WDR36)—have been identified as the GLC1A, GLC1E, and GLC1G”. A better understanding of the molecular genetic pathways and the pathological mechanisms involving the disease-causing genes, may help clarify the pathophysiology that leads to the disease and a targeted treatment. The role of genetics in POAG highlights the importance of genes in recent research advances, their future directions, applications, and therapy. The advent of modern genetic discoveries and future directions in vector engineering makes the cure for POAG possible. The paradigm shift in glaucoma treatment has moved from direct RGC and ONH therapy to targeting associated brain centers.
Keywords: Primary open angle glaucoma, glaucoma gene, mutation, gene locus, gene therapy, genetic mapping, mendelian inheritance, gene transfer vector transduction, vector engineering