Epidemiology and Genetic Risk Factors of Primary Open-Angle Glaucoma in the Igbo Population of South East Nigeria

Primary open-angle glaucoma (POAG) disproportionately affects persons of African descent, yet population-specific epidemiological and genetic data from South East Nigeria remain sparse, limiting targeted prevention strategies. This study investigates the epidemiology and genetic risk factors of POAG among the Igbo population of Anambra and Enugu States, South East Nigeria. An analytical cross-sectional design will be employed. Cases will be recruited from ophthalmology clinics at UNTH Enugu and Nnamdi Azikiwe University Teaching Hospital Nnewi, while controls will be age and sex-matched community individuals with normal IOP and optic disc appearance. A total of 200 confirmed POAG cases and 200 controls will be enrolled. Comprehensive ophthalmic assessment, family history documentation, and blood sampling for genotyping of candidate genes including MYOC, OPTN, WDR36, and NTF4 will be performed. Logistic regression will identify independent genetic and clinical predictors of POAG. While family history is a well-established POAG risk factor, the specific variant frequencies associated with POAG in the Igbo population have not been characterised. This study bridges a critical gap in the African ophthalmic genomics literature. Findings will have immediate clinical implications for family-based screening and long-term implications for pharmacogenomics of glaucoma treatment in this population. Recommendations will inform the development of a South East Nigeria glaucoma genetics registry and advocate for collaborative research networks to expand genomic glaucoma research across Nigerian ethnic groups. Keywords: primary open-angle glaucoma, genetics, Igbo population, South East Nigeria, MYOC