This study confirms that CYP1B1 mutations are associated with POAG and PCG in the Pakistani population.
QoL scores are significantly reduced in Pakistani glaucoma patients with early and moderate glaucoma, with more pronounced effect on mental health and general vision.
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.
Iridogoniodysgenesis is a rare autosomal dominant disorder affecting anterior segment of the eye. Fifty percent cases of iridogoniodysgenesis have glaucoma, which is particularly difficult to manage. We report here a case of 40 years old man with this rare disorder, presenting to our glaucoma department. It was characterised by iris hypoplasia and juvenile glaucoma. To stop fluctuation in his intraocular pressure (IOP) and to save his vision from glaucomatous damage, our team had to do three different surgical procedures, i.e. trabeculectomy with F5U, diode laser cycloablation and aqueous shunt procedure, over a period of 10 months. This case report discusses management of glaucoma in this particular patient and challenges faced during the treatment. Regular follow-up and timely intervention can save such patients from complete blindness. To authors' knowledge, this is the first reported case of iridogoniodysgenesis in Pakistan.
Purpose: To compare between the intra-ocular pressure (IOP) measured by Goldmann applanation tonometer (GAT) and non-contact air-puff tonometer (APT) considering GAT as gold standard. Study Design: Comparative analytical study Place and Duration of Study: Al-Shifa trust eye Hospital, Rawalpindi from January 2018 to June 2018 Methods: Five hundred individuals, 223 glaucoma patients and 277 non glaucoma control subjects were recruited. After taking a detailed history, slit-lamp examination and fundoscopy was performed to check glaucoma status of the eyes. Retinal nerve fiber layer (RNFL) was checked with optical coherence tomography. Non-contact air-puff tonometry of both eyes were performed. Using a drop of local anesthetic and small amount of fluorescein, intra-ocular pressure was measured with GAT (Haag Streit Diagnostics).Central corneal thickness was measured for correction of IOP measurement with GAT. Paired sample correlations were performed to compare the mean IOP with APT and GAT with and without correction factor. Sensitivity and specificity for measurement of IOP by APT was calculated considering GAT as gold standard. Results: Mean age of the male and female participants was 49.87+18.70years and 45.53+16.91years respectively. Mean IOP in glaucomatous eyes measured by GAT (after applying correction factor) and APT was 16.01+5.57 mmHg and 17.31+7.22 mmHg respectively. The sensitivity and specificity of APT for measuring IOP in glaucomatous eyes were 84.04% and 73.53% respectively. Conclusion: Non-contact air-puff tonometer has good sensitivity and specificity and can be used reliably for measurement of IOP in out-patient department and for mass screening of the population.
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