A multi-cohort genome-wide association study in African ancestry individuals reveals risk loci for primary open-angle glaucoma.

Primary open-angle glaucoma (POAG), the leading cause of irreversible blindness worldwide, disproportionately affects individuals of African ancestry. We conducted a genome-wide association study (GWAS) for POAG in 11,275 individuals of African ancestry (6,003 cases; 5,272 controls). We detected 46 risk loci associated with POAG at genome-wide significance. Replication and post-GWAS analyses, including functionally informed fine-mapping, multiple trait co-localization, and in silico validation, implicated two previously undescribed variants (rs1666698 mapping to DBF4P2; rs34957764 mapping to ROCK1P1) and one previously associated variant (rs11824032 mapping to ARHGEF12) as likely causal. For individuals of African ancestry, a polygenic risk score (PRS) for POAG from our mega-analysis (African ancestry individuals) outperformed a PRS from summary statistics of a much larger GWAS derived from European ancestry individuals. This study quantifies the genetic architecture similarities and differences between African and non-African ancestry populations for this blinding disease.

Patients' Acceptance of Glaucoma Therapy in Sub-Saharan Africa.

PURPOSE: To determine the frequency at which patients newly diagnosed with glaucoma in sub-Saharan Africa (SSA) decline recommended therapy and to characterize the reasons for declining therapy. METHODS: This was a multicenter, cross-sectional study conducted on adult patients at the time of glaucoma diagnosis at 27 centers in 10 countries in SSA. Data collected from the diagnostic encounter included demographics, clinical glaucoma characteristics, treatment recommendations, patient acceptance of therapy, and reasons for declining therapy. RESULTS: Among 2,282 eyes of 1,198 patients offered treatment for glaucoma, initially recommended treatment was accepted in 2,126 eyes (93.2%). Acceptance of therapy varied with the nature of treatment offered, with medical therapy accepted in 99.2% of eyes, laser therapy in 88.3%, and surgical therapy in 69.3%. The most common reasons cited for declining therapy were fear (42.9%) and cost (41.7%); cost was the primary reason for declining medical and laser therapy, while fear was the most common reason for declining surgical therapy. Most patients declining laser or surgical therapy accepted medical therapy as an alternate therapy (98.1%). CONCLUSIONS: Patients' acceptance of glaucoma therapy was high overall, but lower for surgery than for laser or medical therapy. Most patients who declined laser or surgical therapy accepted medical therapy as an alternate therapy when offered. Educational interventions, sustainable incentives, and other approaches are needed to enhance patient acceptance of glaucoma therapy in this setting, particularly surgery when needed.