Mahmood Ali

Identification of novel CYP1B1 gene mutations in patients with primary congenital and primary open-angle glaucoma

CYP1B1 is the most commonly mutated gene in primary congenital glaucoma (PCG), and mutations have also been identified in primary open‐angle glaucoma (POAG). This study was undertaken to describe mutations in CYP1B1 in patients and families with PCG and POAG from Pakistan.

Association of a polymorphism in the BIRC6 gene with pseudoexfoliative glaucoma.

Recently an association was observed between alleles in genes of the unfolded protein response pathway and primary open angle glaucoma (POAG). The goal of the current study is to investigate the role of these two genes, protein disulphide isomerase A member 5 (PDIA5) and baculoviral IAP repeat containing 6 (BIRC6), in different forms of glaucoma. 278 patients with POAG, 132 patients with primary angle closure glaucoma (PACG) and 135 patients with pseudoexfoliative glaucoma (PEXG) were genotyped for single nucleotide polymorphisms (SNPs) rs11720822 in PDIA5 and 471 POAG, 184 PACG and 218 PEXG patients were genotyped for rs2754511 in BIRC6. Genotyping was done by allelic discrimination PCR, and genotype and allele frequencies were calculated. Logistic regression analyses were performed using R software to determine the association of these SNPs with glaucoma. The allele and genotype frequencies of rs11720822 in PDIA5 were not associated with POAG, PACG or PEXG. The TT genotype of rs2754511 in BIRC6 was found to be protective for PEXG (p = 0.05, OR 0.42 [0.22–0.81]) in the Pakistani population, but not for POAG or PACG. This study did not confirm a previously reported association of risk alleles in PDIA5 and BIRC6 with POAG, but did demonstrate a protective role of the T allele of rs2754511 in the BIRC6 gene in PEXG. This supports a role for the unfolded protein response pathway and regulation of apoptotic cell death in the pathogenesis of PEXG.

Vision-related quality of life in Pakistani subjects with early or moderate glaucoma

Background The aim of this study was to report the vision-related quality of life (QoL) in Pakistani subjects with early or moderate glaucoma. Methods This case control study was conducted at Al-Shifa Trust Eye Hospital, Pakistan, from 1 January 2014 to 31 December 2015. All the patients having early or moderate glaucoma, with a disease duration of at least 6 mo, and presenting during the study period, were included. Subjects in the control group were recruited from the hospital volunteer staff, spouses and friends of patients. QoL assessment was done using the NEIVFQ25 questionnaire translated into the Urdu language. A two-tailed t-test was used to test the significance of difference between the mean QoL scores and a p-value of ≤0.05 was considered significant. Multiple linear regression was carried out to assess the predictors of QoL scores. Results A total of 698 participants were enrolled, including 247 cases and 451 controls. The mean QoL score was higher in controls 81.31 (mean=81.31, SD=26.33) than in cases (mean=53.89, SD=30.32), p<0.001. The lowest NEIVFQ-25 scores for glaucoma patients were for mental health (mean=23.88, SD=28.80) followed by general vision (mean=27.73, SD=29.74). The difference in all the mean subscale scores of two groups was statistically significant (p<0.001). Conclusion QoL scores are significantly reduced in Pakistani glaucoma patients with early and moderate glaucoma, with more pronounced effect on mental health and general vision.