APOE ε2-Carriers Are Associated with an Increased Risk of Primary Angle-Closure Glaucoma in Patients of Saudi Origin.

This study investigated the association between apolipoprotein E (APOE) gene polymorphisms (rs429358 and rs7412) and primary angle-closure glaucoma (PACG) and pseudoexfoliation glaucoma (PXG) in a Saudi cohort. Genotyping of 437 DNA samples (251 controls, 92 PACG, 94 PXG) was conducted using PCR-based Sanger sequencing. The results showed no significant differences in the allele and genotype frequencies of rs429358 and rs7412 between the PACG/PXG cases and controls. Haplotype analysis revealed ε3 as predominant, followed by ε4 and ε2 alleles, with no significant variance in PACG/PXG. However, APOE genotype analysis indicated a significant association between ε2-carriers and PACG (odds ratio = 4.82, 95% CI 1.52-15.26, p = 0.007), whereas no notable association was observed with PXG. Logistic regression confirmed ε2-carriers as a significant predictor for PACG (p = 0.008), while age emerged as significant for PXG (p < 0.001). These findings suggest a potential role of ε2-carriers in PACG risk within the Saudi cohort. Further validation and larger-scale investigations are essential to elucidate the precise role of APOE in PACG pathogenesis and progression.

Common Variants rs429358 and rs7412 in APOE Gene Are Not Associated with POAG in a Saudi Cohort.

Adult-onset glaucoma, an age-related neurodegenerative disease, is very prevalent among the elderly Arabs of Saudi origin. This study investigated the association between apolipoprotein E (APOE) gene variants (rs429358 and rs7412) and primary open-angle glaucoma (POAG) in Arabs of Saudi origin. A case-control genetic association study involving 179 POAG patients and 251 controls utilized Sanger sequencing to genotype APOE gene variants. The allele frequencies and genotype distributions for rs429358 and rs7412 did not show significant associations with POAG. The haplotype analysis revealed apoε3 (87.6% and 87.4%) as the most prevalent, followed by ε4 (2.8% and 3.6%) and ε2 (9.6% and 8.9%) in the controls and POAG patients, respectively. Although the ε2/ε3 genotype and ε2-carriers displayed a more than two-fold increased risk, statistical significance was not reached. Notably, these polymorphisms did not affect clinical markers, such as intraocular pressure and cup/disc ratio. The logistic regression analysis demonstrated no significant influence of age, sex, rs429358, or rs7412 polymorphisms on POAG. In conclusion, within the Saudi cohort, APOE variants (rs429358 and rs7412) do not appear to be associated with POAG and are not substantial risk factors for its development. However, additional population-based studies are required to validate these findings.

Impact of mobile-based health education on the awareness of glaucoma in Saudi patients: Quasi-experimental study.

PURPOSE: To investigate the impact of smart mobile phones utilization and applying Bandura's social learning theory in educating and raising awareness to glaucoma treatment compliance in primary chronic glaucoma Saudi patients, as well as examining the social learning process and determining the type of educational material (video, electronic document "brochure") with the highest efficacy in social learning as assessed by the change in Saudi patients' awareness. Finally to assess the variations contributing to chronic glaucoma patients' social learning. METHODS: A total of 150 Saudi patients with primary chronic glaucoma were recruited in our study. They were divided equally into three main groups: Control, electronic document brochure, and animated video. An electronic questionnaire was sent to them through WhatsApp twice, starting with the pretest and then after 1 week of the intervention the posttest questionnaire was sent. Results were collected for both the pretest and the posttest. The study was done at the outpatient clinic at King AbdulAziz University Hospital in Riyadh, Saudi Arabia. RESULTS: Upon comparison of the preintervention score for all groups, we found no significant difference. However, there was an improvement in the postintervention score among all groups in comparison to the preintervention score, with a statistically significant difference for the video group (P < 0.0001). Comparing the postintervention score for all groups, the video group was better than other two groups. CONCLUSION: Using mobile-based educational interventions may significantly increase patients' awareness. Both interventional methods were found to be effective in educating patients. However, video-based learning has been significantly more effective. Findings revealed that the most important factor is educational level, which enables better response to health education material.

Unique Roberts syndrome with bilateral congenital glaucoma: A case report.

BACKGROUND: Congenital glaucoma associated with Roberts syndrome (RS) is an unusual and unique condition. No previous report describes this association. A multidisciplinary approach including molecular studies were conducted to reach the final diagnosis. CASE SUMMARY: We present a rare case of a 1-wk-old male with RS associated with bilateral congenital glaucoma, left ectopic kidney, and left-hand rudimentary digits. A comprehensive approach was applied by which bilateral non-penetrating glaucoma surgery was performed with good control of intraocular pressure for more than 6 mo. Cytogenetic and molecular testing were conducted and revealed normal measurements. CONCLUSION: This report described a case of a male baby with clinical features of RS but with a negative molecular analysis, presenting with left-hand rudimentary digits, bilateral congenital glaucoma, and left ectopic kidney. To the best of our knowledge, this is the first case reported with phocomelia, bilateral congenital glaucoma, and unilateral ectopic kidney.

The 3' UTR polymorphisms rs3742330 in DICER1 and rs10719 in DROSHA genes are not associated with primary open-angle and angle-closure glaucoma: As case-control study.

AIM: In a retrospective and exploratory case-control study, we examined the genetic association of two common polymorphisms in the 3' untranslated region (UTR) of DICER1 (rs3742330) and DROSHA (rs10719) genes in primary open-angle glaucoma (POAG) and primary angle-closure glaucoma (PACG), and its related clinical phenotypes in a Saudi cohort. METHODS: DNA genotyping was performed using TaqMan real-time PCR assays in 500 participants, including 152 POAG, 102 PACG, and 246 non-glaucomatous controls. Statistical analyses were performed to examine the association(s). RESULTS: Allele and genotype frequency of rs3742330 and rs10719 did not vary significantly in POAG and PACG compared to controls. No significant deviation was observed from Hardy-Weinberg Equilibrium (p > 0.05). Gender stratification revealed no significant allelic/genotype association with glaucoma types. Also, these polymorphisms showed no significant genotype effect on clinical markers such as intraocular pressure, cup/disc ratio, and the number of antiglaucoma medications. Logistic regression showed no effect of age, sex, rs3742330, and rs10719 genotypes on the risk of disease outcome. We also examined a combined allelic effect of rs3742330 (A>G) and rs10719 (A>G). However, none of the allelic combinations significantly affected POAG and PACG. CONCLUSIONS: The 3' UTR polymorphisms rs3742330 and rs10719 of DICER1 and DROSHA genes are not associated with POAG and PACG or its related glaucoma indices in this Middle-Eastern cohort of Saudi Arab ethnicity. However, there is a need to validate the results on a broader population and other ethnicities.

Lack of Association of Polymorphism Located Upstream of ABCA1 (rs2472493), in FNDC3B (rs7636836), and Near ANKRD55-MAP3K1 Genes (rs61275591) in Primary Open-Angle Glaucoma Patients of Saudi Origin.

Polymorphisms rs2472493 near ABCA1, rs7636836 in FNDC3B, and rs61275591 near the ANKRD55-MAP3K1 genes were previously reported to exhibit genome-wide significance in primary open-angle glaucoma (POAG). Since these polymorphisms have not been investigated in the Arab population of Saudi Arabia, we examined their association with POAG in a Saudi cohort. Genotyping was performed in 152 POAG cases and 246 controls using Taqman real-time assays and their associations with POAG and clinical markers, such as intraocular pressure, cup/disc ratio, and the number of antiglaucoma medications, were tested by statistical methods. There was no association observed between POAG and the minor allele frequencies of rs2472493[G], rs7636836[T], or rs61275591[A]. None of the genetic models such as co-dominant, dominant, recessive, over-dominant, and log-additive demonstrated any genotype link. The Rs2472493 genotype showed a modest association (p = 0.044) with the number of antiglaucoma medications in the POAG group, but no significant genotype effect on post hoc analysis. In addition, a G-T allelic haplotype of rs2472493 (ABCA1) and rs7636836 (FNDC3B) did show an over two-fold increased risk of POAG (odds ratio = 2.18), albeit non-significantly (p = 0.092). Similarly, no other allelic haplotype of the three variants showed any significant association with POAG. Our study did not replicate the genetic association of rs2472493 (ABCA1), rs763683 (FNDC3B), and rs61275591 (ANKRD55-MAP3K1) in POAG and related clinical phenotypes, suggesting that these polymorphisms are not associated with POAG in a Saudi cohort of Arab ethnicity. However, large population-based multicenter studies are needed to validate these results.

Two-Year Outcomes of Ultrasound Cyclo Plasty as a First Procedure in Glaucoma.

PURPOSE: To evaluate the 2-year outcomes of ultrasound cyclo plasty (UCP) as a first procedure in glaucoma. METHODS: This retrospective cohort study included patients with uncontrolled glaucoma who underwent UCP as an initial glaucoma procedure. The main outcome measures were intraocular pressure (IOP), the number of antiglaucoma medications, visual acuity, and the presence of vision-threatening complications. Surgical outcomes of each eye were classified as either complete success, qualified success, or failure based on the main outcome measures. Differences in IOP control and success rates were compared in eyes with primary open-angle glaucoma (POAG) and primary angle-closure glaucoma (PACG). RESULTS: We included 98 eyes of 88 patients in the study. The mean follow-up period was 27.25 ± 10.1 months. At 12 and 24 months, mean IOP decreased significantly from 23.16 ± 6.4 mmHg to 16.57 ± 6.0 mmHg and 16.18 ± 5.2 mmHg, respectively, and the number of antiglaucoma medications decreased from 3.27 ± 0.9 to 1.86 ± 1.4 and 1.70 ± 1.7, respectively (p < .01 for all). There were no changes in visual acuity throughout the follow-up compared with preoperative levels. The cumulative probabilities of success were 64.3% (±4.8) [78.9% (±9.4) complete success, and 72.9% (±6.4) qualified success], and 42.9% (±5.0) [52.6% (±11.5) complete success, and 56.3% (±7.2) qualified success] at 12 and 24 months, respectively. The most common complications were cataract development/progression, anterior chamber inflammation, and macular edema. There were no significant differences in IOP, number of antiglaucoma medications, or survival rates between POAG and PACG groups. CONCLUSIONS: UCP can be used as an initial glaucoma procedure for reducing IOP and the number of antiglaucoma medications and offers comparable outcomes in POAG and PACG.

Outcomes of Ultrasound Cyclo Plasty in Primary Angle Closure Glaucoma.

PRCIS: Ultrasound cyclo plasty (UCP) can be useful in decreasing the intraocular pressure (IOP) and burden of antiglaucoma medications in eyes with primary angle closure glaucoma (PACG). Nevertheless, baselines IOP was an important determinant for failure. PURPOSE: To evaluate the intermediate-term outcomes of UCP in PACG. METHODS: This retrospective cohort study included patients with PACG who underwent UCP. The main outcome measures were IOP, number of antiglaucoma medications, visual acuity, and presence of complications. The surgical outcomes of each eye were classified as a complete success, qualified success, or failure based on the main outcome measures. Cox regression analysis was performed to identify possible predictors for failure. RESULTS: Sixty-two eyes of 56 patients were included in the study. The mean follow-up period was 28.81 months (±18.2). The IOP and number of antiglaucoma medications decreased from a mean of 23.03 (±6.4) mmHg and 3.42 (±0.9) to 15.57 (±6.4) mmHg and 2.04 (±1.3), respectively, in the 12 th month and to 14.22 (±5.0) mmHg and 1.91 (±1.5) in the 24 th month ( P <0.01 for all). The cumulative probabilities of overall success were 72.6±5.7% and 54.8±6.3% at 12 and 24 months, respectively. A high baseline IOP was associated with a higher risk of failure (hazard ratio=1.10, P =0.03). The most common complications were cataract development or progression (30.6%), rebound or prolonged anterior chamber reaction (8.1%), hypotony with choroidal detachment (3.2%), and phthisis bulbi (3.2%). CONCLUSIONS: UCP offers reasonable 2-year IOP control and reduction of the antiglaucoma medication burden. However, counseling on possible postoperative complications is needed.

Outcomes and Predictors of Failure of Ultrasound Cyclo Plasty for Primary Open-Angle Glaucoma.

Aims: To evaluate the outcomes of ultrasound cyclo plasty (UCP) for primary open-angle glaucoma (POAG) and identify the predictors of failure. Methods: This retrospective cohort study included patients with POAG who underwent UCP at King Abdul Aziz University Hospital, Riyadh, Saudi Arabia, between 2016 and 2021. The main outcome measures were the intraocular pressure (IOP), the number of antiglaucoma medications, and the presence of vision-threatening complications. The surgical outcome of each eye was based on the main outcome measures. Cox proportional hazard regression analysis was performed to identify the possible predictors of UCP failure. Results: Sixty-six eyes of fifty-five patients were included herein. The mean follow-up period was 28.95 (±16.9) months. The mean IOP decreased significantly from 23.02 (±6.1) to 18.22 (±7.0) and 16.44 (±5.3) mm Hg on the 12th and 24th months, respectively; the mean number of antiglaucoma medications decreased significantly from 3.23 (±0.9) to 2.15 (±1.5) and 2.09 (±1.6), respectively. The cumulative probabilities of overall success were 71.2 ± 5.6% and 40.9 ± 6.1% on the 12th and 24th months, respectively. High baseline IOP and the number of antiglaucoma medications were associated with a higher risk of failure (hazard ratio = 1.10 and 3.01, p = 0.04 and p < 0.01, respectively). The most common complications were cataract development or progression (30.8%) and prolonged or rebound anterior chamber reaction (10.6%). Conclusions: UCP reasonably controls the IOP and reduces the antiglaucoma medication burden in eyes with POAG. Nevertheless, the success rate is modest, with a high baseline IOP and number of medications.

Ultrasound Cyclo Plasty in Glaucoma: 2-Year Outcomes.

PRCIS: UCP offers reasonable IOP control and reduction of the antiglaucoma medication burden. PURPOSE: The purpose of this study is to evaluate the 2-year outcomes of Ultrasound Cyclo Plasty (UCP) in uncontrolled glaucoma. MATERIALS AND METHODS: A retrospective cohort study included patients with uncontrolled primary or secondary glaucoma who underwent UCP at King Abdul Aziz University Hospital, Riyadh, Saudi Arabia, between 2016 and 2021. The main outcome measures were intraocular pressure (IOP), number of antiglaucoma medications, and presence of vision-threatening complications. The surgical outcome of each eye was classified as complete success, qualified success, or failure based on the main outcome measures. RESULTS: One hundred and eighty-two eyes of 158 patients were included in the study. The mean follow-up period was 29.71 months (±18.1). The IOP and the number of antiglaucoma medications decreased significantly from a mean of 23.46 mm Hg (±6.3) and 3.33 (±0.9) to 17.33 (±7.1) and 2.14 (±1.4), and 16.24 (±6.3) and 1.90 (±1.5) on the 12th and 24 months, respectively. The overall success rates were 78.0% (143/182) and 85.6% (95/111), and the failure rates were 21.4% (39/182) and 14.4% (16/111) on the 12th and 24th months, respectively. The most common complications were cataract development/progression and anterior chamber reaction. CONCLUSIONS: UCP offers reasonable IOP control and reduction of the antiglaucoma medication burden.

Evaluation of ABCA1 and FNDC3B Gene Polymorphisms Associated With Pseudoexfoliation Glaucoma and Primary Angle-Closure Glaucoma in a Saudi Cohort.

Objective: It is plausible that common disease mechanisms exist in glaucoma pathophysiology. Accordingly, we investigated the genetic association of two previously reported primary open-angle glaucoma (POAG)-related gene polymorphisms, rs2472493 (A > G) in ABCA1 and rs7636836 (C > T) in FNDC3B, in primary angle-closure glaucoma (PACG) and pseudoexfoliation glaucoma (PXG). Methods: TaqMan genotyping was performed in a total of 442 subjects consisting of 246 healthy controls, 102 PACG patients, and 94 PXG patients. Statistical evaluations were performed to detect allelic and genotype association of the variants with the disease and clinical variables such as intraocular pressure (IOP) and cup/disc ratio. Results: Overall, there was no allelic or genotype association of these variants in PACG and PXG. However, rs7636836[T] allele significantly increased the risk of PXG among men (p = 0.029, odds ratio [OR] = 2.69, 95% confidence interval = 1.11-6.51). Similarly, rs2472493 and rs7636836 genotypes also showed significant association with PXG among men in over-dominant model (p = 0.031, OR = 1.98, 95% CI = 1.06-3.71) and co-dominant model (p = 0.029, OR = 2.69, 95% CI = 1.11-6.51), respectively. However, none survived Bonferroni's correction. Besides, the synergic presence of rs2472493[G] and rs7636836[T] alleles (G-T) was found to significantly increase the risk of PACG (p = 0.026, OR = 2.85, 95% CI = 1.09-7.46). No significant genotype influence was observed on IOP and cup/disc ratio. Conclusion: Our results suggest that the polymorphisms rs2472493 in ABCA1 and rs7636836 in FNDC3B genes may be associated with PXG among men, and a G-T allelic combination may confer an increased risk of PACG in the middle-eastern Saudi cohort. Further research in a larger population-based sample is needed to validate these findings.

Polymorphism rs3742330 in microRNA Biogenesis Gene DICER1 Is Associated with Pseudoexfoliation Glaucoma in Saudi Cohort.

We investigated the association between DICER1 (rs3742330) and DROSHA (rs10719) polymorphisms and pseudoexfoliation glaucoma (PXG) and related clinical phenotypes in a Saudi cohort. In a retrospective case-control study, TaqMan real-time, PCR-based genotyping was performed in 340 participants with 246 controls and 94 PXG cases. The minor (G) allele frequency of rs3742330 in PXG (0.03) was significantly different from that in the controls (0.08) and protective against PXG (odds ratio (OR) = 0.38, 95% confidence interval (CI) = 0.16-0.92), p = 0.017). Similarly, the rs3742330 genotypes showed a significant protective association with PXG in dominant (p = 0.019, OR = 0.38, 95% CI = 0.15-0.92), over-dominant (p = 0.024, OR = 0.39, 95% CI = 0.16-0.95), and log-additive models (p = 0.017, OR = 0.38, 95% CI = 0.16-0.92). However, none remained significant after an adjustment for age, sex, and multiple testing. Rs10719 in DROSHA did not show any significant allelic or genotype association with PXG. However, a protective effect of the GA haplotype in DICER1 and DROSHA and PXG (p = 0.034) was observed. Both polymorphisms showed no significant effect on intraocular pressure and the cup-disk ratio. In conclusion, we report a significant genetic association between variant rs3742330 in DICER1, a gene involved in miRNA biogenesis, and PXG. Further investigation in a larger group of patients of different ethnicities and functional studies are warranted to replicate and validate its potential role in PXG.

Oculocerebrocutaneous syndrome (Delleman Oorthuys syndrome) associated with congenital glaucoma: A case report.

INTRODUCTION: Oculocerebrocutaneous syndrome (Delleman Oorthuys syndrome) (OMIM 164180) is a rare syndrome affecting eyes, skin, and central nervous system, and it is usually associated with microphthalmia. CASE DESCRIPTION: A 4-day old baby boy was referred to our hospital for the evaluation of buphthalmos in the left eye. His clinical evaluation was remarkable for oculocerebrocutaneous syndrome with congenital glaucoma in the left eye and microphthalmos in the right eye. CONCLUSION: Our report represents the first case of oculocerebrocutaneous syndrome associated with unilateral congenital glaucoma so far in the literature.

Association analysis of variants rs35934224 in TXNRD2 and rs6478746 in LMX1B in primary angle-closure and pseudoexfoliation glaucoma.

OBJECTIVE: Previous genome-wide studies have demonstrated significant pathogenic association between variants rs35934224 within TXNRD2 and rs6478746 near LMX1B in primary open-angle glaucoma. We investigated the association between these variants in primary angle-closure glaucoma (PACG) and pseudoexfoliation glaucoma (PXG) patients of Saudi origin. METHODS: In a case-control study, DNA samples from 249 controls (135 men and 114 women), 100 PACG cases (44 men and 56 women), and 95 PXG cases (61 men and 34 women) were genotyped by TaqMan® based real-time PCR. Statistical tests were performed to evaluate genetic association with glaucoma types and related clinical indices. RESULTS: The allele frequencies of rs35934224 and rs6478746 did not show significant variation in PACG and PXG than controls, except that the rs35934224[T] allele was found to be significantly low among PXG women (0.10) as compared to controls (0.21) (odds ratio = 0.38, 95% confidence interval = 0.16-0.94, p = 0.024). Rs35934224 genotypes showed a nominal-to-borderline protective association with PACG and PXG among women in different genetic models. However, except for the over-dominant model in PACG (p = 0.0095), none of the effects survived Bonferroni's correction (p < 0.01). Rs6478746 showed no significant genotype or allelic association with PACG and PXG. Regression analysis showed no influence on disease outcome, and neither showed any correlation with intraocular pressure and cup/disk ratio in both PACG and PXG. CONCLUSIONS: Variants rs35934224 in TXNRD2 and rs6478746 near LMX1B are not associated with PACG and PXG in the Saudi cohort, but rs35934224 may confer modest protection among women. Further population-based studies are needed to validate these results.

Lack of Association Between Polymorphisms in TXNRD2 and LMX1B and Primary Open-Angle Glaucoma in a Saudi Cohort.

Objective: Recent studies have demonstrated an association of single nucleotide polymorphisms (SNPs) rs35934224 in TXNRD2 and rs6478746 near LMX1B genes in primary open-angle glaucoma (POAG) among Europeans. We performed a retrospective, case-control study to investigate the association between the rs35934224 (TXNRD2) and rs6478746 (LMX1B) and POAG in a middle-eastern population from Saudi Arabia. Methods: DNA from 399 participants consisting of 150 POAG cases (83 males and 67 females) and 249 controls (135 males and 114 females) were genotyped using TaqMan® real-time PCR. Statistical tests were performed to evaluate genetic association with POAG and related clinical indices. Results: The minor allele frequency (MAF) of rs35934224[T] was 0.19 and 0.20 in POAG and controls, respectively. The difference was non-significant (odds ratio [OR] = 1.08, 95% confidence interval [CI] = 0.75-1.55, p = 0.663). Likewise, rs6478746[G] MAF was 0.12 in both cases and controls with no statistical significance (OR = 1.02, 95% CI = 0.67-1.56, p = 0.910). Genotype analysis showed no association with POAG for both the SNPs in combined and gender-stratified groups. Regression analysis showed no significant effect of risk factors such as age, sex, rs35934224, and rs6478746 genotypes on POAG outcome. Furthermore, both the SNPs showed no significant genotype effect on clinical indices such as intraocular pressure (IOP) and cup/disc ratio in POAG patients. Conclusions: Rs35934224 in TXNRD2 and rs6478746 near LMX1B genes are not associated with POAG or related clinical indices such as IOP and cup/disc ratio in a Saudi cohort. Since the study is limited by sample size further investigations are needed to confirm these results in a larger cohort.

Association of rs12997 variant in the ACVR1 gene: a member of bone morphogenic protein signaling pathway with primary open-angle glaucoma in a Saudi cohort.

We investigated the association between variants rs12997 in activin A receptor type I (ACVR1) and rs1043784 in BMP6 located in the 3' untranslated region, and primary open-angle glaucoma (POAG). The retrospective case-control study used TaqMan real-time PCR assay to genotype 400 subjects, including 150 patients with POAG and 250 controls. The minor 'G' allele of rs12997 in ACVR1 showed significant association with POAG (p=0.027, OR=1.39, 95% CI=1.03 to 1.87). Likewise, rs12997 genotypes showed moderate association with POAG in recessive (p=0.048, OR=1.80, 95% CI=1.01 to 3.20) and log-additive models (p=0.030, OR=1.39, 95% CI=1.03 to 1.87), but did not survive Bonferroni correction. Rs1043784 in BMP6 showed no associations. Furthermore, rs12997 G/G genotype significantly (p=0.033) increased the risk of POAG (twofolds) independent of age, sex and rs1043784 genotypes in regression analysis. However, clinical variables such as intraocular pressure and cup/disc ratio showed no association with both the polymorphisms. To conclude, the study shows a modest association between rs12997 in the ACVR1 gene, a member of the bone morphogenic protein signaling pathway and POAG. However, the results need further replication in large population-based cohorts and different ethnicities to validate its role as an important genetic biomarker.

Prevalence of Plateau Iris Syndrome among Patients Presenting with Primary Angle Closure and Primary Angle-Closure Glaucoma in a Tertiary Eye Care Hospital.

PURPOSE: Glaucoma is a leading cause of visual impairment worldwide, and plateau iris syndrome (PIS) is the most common nonpupillary block mechanism of angle closure. This study aims to assess the prevalence of PIS among Saudi population. METHODS: It is a prospective observational study that examined patients previously diagnosed with chronic angle closure. Those patients already underwent peripheral laser iridotomy (PLI) and were assessed clinically and by ultrasound biomicroscopy (UBM). RESULTS: A total of 147 eyes in 77 patients were included in this study. The mean age among subjects was 61.2 years, and almost 69% were females. Chronic angle closure was noted to be bilateral in 91% of patients, whereas 5% had their left eye involved and 4% had right eye involved. The mean intraocular pressure (IOP) before PLI and after laser treatment was 19.3 and 16.2, respectively. The mean visual acuity before and after PLI was 0.3 logMAR. After UBM examination, plateau iris was found in 41.5% of subjects. The anterior chamber (AC) depth was noted to be deeper in PIS patients (P = 0.046). Other risk factors were observed in our study including place of residency (P = 0.048) and preintervention IOP (P = 0.032). CONCLUSION: PIS is the most common mechanism of nonpupillary block angle closure. In addition to clinical findings, UBM is important to reach the appropriate diagnosis. This study reviewed the prevalence of PIS with the aid of UBM; it was found consistent with previous reports. In addition, PIS risk factors included AC depth, place of residency, and preintervention IOP.

Association analysis of polymorphisms rs12997 in ACVR1 and rs1043784 in BMP6 genes involved in bone morphogenic protein signaling pathway in primary angle-closure and pseudoexfoliation glaucoma patients of Saudi origin.

BACKGROUND: Glaucoma is a polygenic neurodegenerative disease and the second most common cause of blindness in Saudi Arabia. To test the hypothesis that genetic variants in the genes involved in the bone morphogenic protein (BMP) signaling pathway may be associated with glaucoma, we investigated the association between 3' untranslated region variants, rs12997 in ACVR1 and rs1043784 in BMP6, and primary angle-closure glaucoma (PACG) and pseudoexfoliation glaucoma (PXG). METHODS: In a case-control study, TaqMan® real-time PCR-based genotyping was done in 444 subjects consisting of 250 controls, 101 PACG and 95 PXG cases, and tested for genetic association with glaucoma-types and other clinical phenotypes. RESULTS: Rs12997[G] allele in ACVR1 exhibited significant 2-fold increased risk of PACG (p = 0.005) in women but not in men. Similarly, genotype analysis also showed that subjects carrying rs12997[G/G] genotype were at > 2-fold risk of PACG that remained significant after adjustment for age, sex, and Bonferroni correction in the recessive model. Furthermore, this effect was also significant in women only. In PXG, the rs12997[G/G] genotype showed a significant trend towards increased risk of the disease (OR = 2.04, 95% CI = 0.99-4.18, p = 0.049) but did not survive the Bonferroni correction. Regression analysis showed that rs12997[G/G] genotype was a significant predictor of PACG independent of age, sex, and rs1043784 genotypes. Likewise, age and rs12997[G/G] genotype showed significant effect on PXG outcome. The rs12997[A/G] genotype showed significant association with cup/disc ratio as compared to wild-type (p = 0.005) in PXG. Genotype and allele frequencies of rs1043784 in BMP6 did not show any significant association either with PACG or PXG. CONCLUSIONS: Our results suggest that the polymorphism rs12997 in the ACVR1 gene involved in the BMP signaling pathway is significantly associated with PACG and PXG in a Saudi cohort. This is the first study to associate this variant/gene with PACG and PXG. However, further studies would be needed to replicate these findings in a large population-based cohort.

Safety and Efficacy of Ahmed Valve on Intractable Glaucoma in Saudi Population.

PURPOSE: The study aims to assess the efficacy and safety of Ahmed glaucoma valve implant in eyes with intractable glaucoma and to evaluate the risk factors for failure. METHODS: A retrospective evaluation of 83 patients (117 eyes) with intractable glaucoma who underwent silicone Ahmed glaucoma valve implant was done in a tertiary care center in Riyadh, Saudi Arabia, between January 2014 and December 2016. Complete success was defined as intraocular pressure (IOP) ≤21 mmHg without medication after a minimum follow-up of 6 months. RESULTS: Eighty-three patients (117 eyes) with intractable glaucoma were evaluated. After a mean follow-up duration of 20.8 ± 3.1 (12-24) months, the overall success rate was achieved in 104 eyes (88.9%). Thirty-six eyes (30.8%) had a complete success rate, whereas 68 eyes (58.1%) had a qualified success rate. Thirteen eyes (11.1%) failed to achieve controlled IOP. The postoperative probability to fail was found to be increasing with time from 0.9% (0.9) in the 1st month to 11.1% (9.9) after 1 year. Complications included a hypertensive phase in 25 eyes (21.4%), encapsulation in 10 eyes (8.5%), hyphema in 7 eyes (6%), hypotony in 2 eyes (1.7%), and blood clots in the implanted tube in 2 eyes (1.7%). The presence of hyphema, scleral patch, and coronary heart diseases was found to increase the risk of failure after Ahmed valve implantation (P = 0.006, 0.040, and 0.014, respectively). CONCLUSIONS: Ahmed glaucoma valve implant was safe and effective in treating cases of intractable glaucoma.