Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study (GWAS) followed by replication in a combined total of 10,503 PACG cases and 29,567 controls drawn from 24 countries across Asia, Australia, Europe, North America, and South America. We observed significant evidence of disease association at five new genetic loci upon meta-analysis of all patient collections. These loci are at EPDR1 rs3816415 (odds ratio (OR) = 1.24, P = 5.94 × 10(-15)), CHAT rs1258267 (OR = 1.22, P = 2.85 × 10(-16)), GLIS3 rs736893 (OR = 1.18, P = 1.43 × 10(-14)), FERMT2 rs7494379 (OR = 1.14, P = 3.43 × 10(-11)), and DPM2-FAM102A rs3739821 (OR = 1.15, P = 8.32 × 10(-12)). We also confirmed significant association at three previously described loci (P < 5 × 10(-8) for each sentinel SNP at PLEKHA7, COL11A1, and PCMTD1-ST18), providing new insights into the biology of PACG.
Background: Cytomegalovirus retinitis (CMVR) is the primary cause of AIDS-related blindness and remains a substantial cause of blindness in resource-limited settings. Retinal detachment (RD) occurs in approximately 1/3 of patients with CMV retinitis. There is limited capacity to treat retinal detachment in resource-limited settings, and retinal detachment commonly results in permanent profound vision loss. Prophylactic argon laser demarcation was widely used in the pre-HAART era in high income countries, and we here describe our experience with this safe, low-cost intervention to prevent blindness from CMV retinitis-related retinal detachment in a resource-limited setting, in the current era where effective antiretroviral therapy is available. Methods: A non-randomized retrospective observational cohort study was conducted over 4 years in patients on cART (combined antiretroviral therapy) and with inactive AIDS-related CMVR involving at least 25% of the retina, and who were treated with prophylactic argon laser demarcation (LD). The main outcomes were retinal detachment and loss of vision.Results: In a 45 eyes from 38 patients with inactive CMVR on cART for HIV/AIDS who underwent prophylactic laser demarcation, there were no retinal detachments and no loss of vision.Conclusion: In this series of patients at risk for CMVR-related retinal detachment who were treated with prophylactic laser demarcation, retinal detachment was prevented and visual acuity was maintained. Prophylactic argon laser demarcation is a safe, effective, and a realistically affordable intervention to reduce blindness in patients with AIDS-related CMV retinitis.
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