Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study including 1,854 PACG cases and 9,608 controls across 5 sample collections in Asia. Replication experiments were conducted in 1,917 PACG cases and 8,943 controls collected from a further 6 sample collections. We report significant associations at three new loci: rs11024102 in PLEKHA7 (per-allele odds ratio (OR)=1.22; P=5.33×10(-12)), rs3753841 in COL11A1 (per-allele OR=1.20; P=9.22×10(-10)) and rs1015213 located between PCMTD1 and ST18 on chromosome 8q (per-allele OR=1.50; P=3.29×10(-9)). Our findings, accumulated across these independent worldwide collections, suggest possible mechanisms explaining the pathogenesis of PACG.
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.
Primary open angle glaucoma (POAG), a major cause of blindness worldwide, is a complex disease with a significant genetic contribution. We performed Exome Array (Illumina) analysis on 3504 POAG cases and 9746 controls with replication of the most significant findings in 9173 POAG cases and 26 780 controls across 18 collections of Asian, African and European descent. Apart from confirming strong evidence of association at CDKN2B-AS1 (rs2157719 [G], odds ratio [OR] = 0.71, P = 2.81 × 10−33), we observed one SNP showing significant association to POAG (CDC7–TGFBR3 rs1192415, ORG-allele = 1.13, Pmeta = 1.60 × 10−8). This particular SNP has previously been shown to be strongly associated with optic disc area and vertical cup-to-disc ratio, which are regarded as glaucoma-related quantitative traits. Our study now extends this by directly implicating it in POAG disease pathogenesis.
Surgical option for glaucoma is considered when other modalities are not working out to keep the intraocular pressure under control. Since the surgical procedures for glaucoma disrupt the integrity of the globe, they are known to produce various complications. Some of those complications can be vision-threatening. To minimize the morbidity, it is very important that one should know how to prevent them, recognize them and treat them. The objective of this article is to provide insight into some of those complications that will help the ophthalmologists in treating glaucoma patients in their clinical practice.
Anterior chamber depth (ACD) is a key anatomical risk factor for primary angle closure glaucoma (PACG). We conducted a genome-wide association study (GWAS) on ACD to discover novel genes for PACG on a total of 5,308 population-based individuals of Asian descent. Genome-wide significant association was observed at a sequence variant within ABCC5 (rs1401999; per-allele effect size = −0.045 mm, P = 8.17×10−9). This locus was associated with an increase in risk of PACG in a separate case-control study of 4,276 PACG cases and 18,801 controls (per-allele OR = 1.13 [95% CI: 1.06–1.22], P = 0.00046). The association was strengthened when a sub-group of controls with open angles were included in the analysis (per-allele OR = 1.30, P = 7.45×10−9; 3,458 cases vs. 3,831 controls). Our findings suggest that the increase in PACG risk could in part be mediated by genetic sequence variants influencing anterior chamber dimensions.
Purpose To evaluate intraocular pressure (IOP) fluctuation during office hours and its predictive factors in untreated primary angleclosure suspects (PACS); post-iridotomy primary angle closure (PAC) and primary angle-closure glaucoma (PACG) eyes with or without IOP-lowering medication(s) as appropriate and medically treated primary open-angle glaucoma (POAG) eyes. Methods One-hundred seventeen eyes (29 PACS, 30 PAC, 28 PACG, and 30 POAG) of 117 patients were included in this crosssectional study. The subjects underwent hourly IOP measurements with Goldmann tonometer from 0800 to 1700 hours. Subjects with PAC and PACG had laser peripheral iridotomy at least 2 weeks prior to the inclusion. SD of office-hour IOP readings was the main outcome measure. Results IOP fluctuation differed between the groups (P = 0.01; Kruskal-Wallis Test). Post hoc Mann-Whitney U-tests showed significantly less IOP fluctuation in PACS compared with PACG (Po0.01). Peak office-hour IOP was observed in the morning in untreated subjects and in the early afternoon in treated subjects. A stepwise linear regression model identified the presence of peripheral anterior synechiae (PAS), thickness of lens, large vertical cup-to-disc ratio (VCDR), and PAC category as significant predictive factors associated with office-hour IOP fluctuation. Conclusions Diurnal IOP fluctuation in asymptomatic PACSs was less than that in treated PACG subjects and was at least comparable to that in treated PAC and POAG subjects. The greater the amount of PAS, the thicker the lens, the larger the VCDR, the greater was the IOP fluctuation during office hours.
Aim:To compare the saccadic reaction time (SRT) in both the central and peripheral visual field in normal and glaucomatous eyes using eye movement perimetery (EMP).Materials and Methods:Fifty-four normal and 25 glaucoma subjects underwent EMP and visual field testing on the Humphrey Field Analyser (HFA) 24-2 program. The EMP is based on infrared tracking of the corneal reflex. Fifty-four test locations corresponding to the locations on the 24-2 HFA program were tested. SRTs at different eccentricities and for different severities of glaucoma were compared between normal and glaucoma subjects.Results:Mean SRT was calculated for both normal and glaucoma subjects. Mann-Whitney U test showed statistically significant (P < 0.001) differences in SRT's between normal and glaucoma subjects in all zones.Conclusion:SRT was prolonged in eyes with glaucoma across different eccentricities.
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