Quality of Life of Older Adults with Primary Open Angle Glaucoma using Bahasa Malaysia Version of Glaucoma Quality of Life 36 Questionnaire.

BACKGROUND: Primary Open-Angle Glaucoma (POAG) is an age-related chronic optic neuropathy causing progressive constriction of visual field, which compromised quality of life (QoL) of older adults. OBJECTIVE: The study aims to determine the QoL according to the severity of visual field using Bahasa Malaysia version of the Glaucoma Quality of Life- 36 (Glau-QoL 36) in older adults with POAG in Malaysia. METHODS: A cross-sectional study was conducted in two tertiary hospitals in Malaysia: Hospital Universiti Sains Malaysia, Kelantan, and Hospital Selayang, Selangor. POAG patients who were ≥ 60 years old at the time of recruitment had minimal cataract, underwent cataract or trabeculectomy surgery at least 3 months prior and were on medical and surgical treatment. The severity of POAG was based on the modified Advanced Glaucoma Intervention Study (AGIS) score on two reliable reproducible Humphrey visual field SITA program 24-2 analysis. Face to face, one-on-one interview was conducted using validated Bahasa Malaysia version of GlauQol 36. RESULTS: A total of 360 older adults with POAG were recruited. Majority were between ages 60-67 (38.3%) with 64 (17.8%) mild, 93 (25.8%) moderate, 115 (31.9%) severe POAG and 88 (24.4%) end-stage severity of POAG. The majority of the recruited patients were not working (88.9%) and live with their families (68.1%). There was a significant association between GlauQoL 36 score of all domains: daily living, driving, physiological well-being, self-image, anxiety, burden of treatment and confidence in healthcare with the severity of POAG (p<0.001). Increased severity of POAG was associated with decreased QoL in all GlauQoL 36 domains except confidence in healthcare. There was also a significant increase in dependency, with a majority of the end-stage were living with their families (p<0.001). CONCLUSION: QoL and independency of older adults with POAG decrease with worsening of visual field defect. Addressing the problem of visual-related activities in older adults with POAG may reduce their dependency and improve QoL. Happy living is important to lead to healthy living among older adults with POAG.

A common variant near TGFBR3 is associated with primary open angle glaucoma.

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.

ABCC5, a gene that influences the anterior chamber depth, is associated with primary angle closure glaucoma.

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.

Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma.

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.