Prevalence of Myocilin Gene Mutation in Adult-Onset Primary Open Angle Glaucoma and Non-Glaucoma Subjects Who Are Indigenes of Rivers State, Nigeria

Background: Glaucoma is the leading cause of irreversible blindness incapacitating over 80 million people worldwide. Several pathogenetic mechanisms have been postulated to explain optic nerve damage that occur in POAG among which genetic predisposition prominent. Gene-Linkage-based studies identified genes associated with POAG: Myocilin, Optineurin, WDR36, Tank-Binding Kinase (TBK1) and APbb-2. Objective: To investigate prevalence myocilin gene mutation adult-onset patients non-glaucoma subjects who are indigenes Rivers State. Methodology: In this comparative cross-sectional study, 393 attending Clinic UPTH were compared age sex-matched phenotypically normal participants. Clinical assessment combined findings from clinical records was used. Venous blood obtained for genomic analyses. Extracted DNA sequenced specific primers polymerase chain reaction. Zymo-Bead Genomic kit protocol used detect allelic differences. Results: Total 786 participants participated study. The mean 59.8 ± 11.8 years. (MYOC) study population 5.3%, group 8.4%, 2.3% group. This observed difference statistically significant (p = 0.001). Location mutant GLC1A 171638779, 171638703, 171638610 171638608. Conclusion: Mutations Its relevance as a biomarker diagnosis needs further investigations.