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.

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.

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.

Elevated Plasma Level of 8-Hydroxy-2'-deoxyguanosine Is Associated with Primary Open-Angle Glaucoma.

PURPOSE: To determine the association between plasma 8-hydroxy-2'-deoxyguanosine (8-OHdG) levels, a marker for oxidative DNA damage, and patients with primary open-angle glaucoma (POAG) or its clinical phenotypes. Furthermore, we also examined the utility of plasma 8-OHdG as a potential biomarker in POAG. MATERIALS AND METHODS: In a retrospective case-control study, plasma samples were obtained from 50 POAG cases and 45 glaucoma-free controls matched for age, sex, and ethnicity. 8-OHdG levels were measured in duplicate using an enzyme-linked immunosorbent assay (ELISA) on an automated ELISA analyzer. RESULTS: There was no significant difference in age, sex, and systemic disease distribution between POAG cases and controls. Both mean and median 8-OHdG levels were significantly elevated in POAG cases and male subjects. The area under the receiver operating characteristic (ROC) curve value for plasma 8-OHdG was 0.653 (95% confidence interval = 0.54-0.76, p = 0.010). The cutoff values based on quartile distribution and ROC curve analysis showed that elevated plasma 8-OHdG significantly increased the risk of POAG by more than 4-folds. Plasma 8-OHdG had a sensitivity of 78% and specificity of 53%. In logistic regression analysis, 8-OHdG showed a significant effect on POAG outcome (p = 0.016) independent of age, sex, smoking, and systemic diseases. However, no significant correlation was observed between 8-OHdG and specific clinical markers of glaucoma such as intraocular pressure (p = 0.699), cup/disc ratio (p = 0.213), and the number of antiglaucoma medications (p = 0.603). CONCLUSION: The study shows that there is a significant association between elevated plasma 8-OHdG and POAG, supporting the role of systemic oxidative stress-induced DNA damage in POAG pathogenesis. However, with a high rate of false-positivity, plasma 8-OHdG may lack the ability to serve as a potential biomarker in POAG. Further studies in a much larger cohort are needed to confirm these findings.

Association of endothelial nitric oxide synthase (NOS3) gene polymorphisms with primary open-angle glaucoma in a Saudi cohort.

AIM: To investigate the association of endothelial nitric oxide synthase (NOS3) gene polymorphisms in patients with primary open-angle glaucoma (POAG) of Saudi origin. METHODS: This case-control study included 173 patients with POAG (94 men and 79 women) and 171 controls (98 men and 73 women). Genotyping of rs2070744 (T-786C) and rs1799983 (G894T) variants of the NOS3 gene was performed using TaqMan® assay. RESULTS: Rs1799983 genotypes showed a significant association with POAG but did not survive Bonferroni correction (pcorrection = 0.01). The minor 'T' allele was significantly associated with the risk of POAG among men (p = 0.025, odds ratio (OR) = 1.77, 95% confidence interval (CI) = 1.07-2.94). Likewise, the genotypes were significantly associated with POAG among men in dominant (p = 0.030, OR = 1.92, 95% CI = 1.06-3.48) and log-additive models (p = 0.022, OR = 1.82, 95% CI = 1.08-3.07), and after adjustment for age and smoking. Genotype and allele frequencies of rs2070744 were not significantly different between POAG cases and controls, and after sex stratification. CG haplotype was significantly protective (p = 0.011, OR = 0.52, 95% CI = 0.32-0.87) and CT haplotype conferred significantly increased risk of POAG (p = 0.016, OR = 2.60, 95% CI = 1.16-5.82) among men. Rs1799983 showed trend (p = 0.054) towards risk of POAG independent of age, gender, smoking, and rs2070744 polymorphism in logistic regression analysis. Both the polymorphisms showed no association with POAG phenotypes such as intraocular pressure and cup/disc ratio. CONCLUSION: Our results suggest that the polymorphism rs1799983 and the haplotypes of rs20707440 and rs1799983 in the NOS3 gene may significantly modulate the risk of POAG in Saudi's, particularly among men. Further larger studies are needed to confirm these findings.

ExPress mini shunt device with trabeculectomy surgery in patients with uncontrolled glaucoma of Middle Eastern descent.

PURPOSE: The aim of this study is to assess the efficacy and safety of ExPress mini shunt in glaucoma patients of Middle Eastern descent. METHODS: This is a prospective cohort study. Uncontrolled glaucoma patients were subjected to ExPress mini-shunt implant. Pre- and post-operative glaucoma clinical indices were measured and compared. Both intra- and postoperative complications and surgical success rates were assessed. In addition to comparing a group of combined ExPress mini-shunt implant with cataract surgery versus ExPress mini-shunt implant alone. RESULTS: A total of 35 eyes of 31 patients were involved. The most common type of glaucoma was primary open-angle glaucoma in 13 eyes (37.1%). Fourteen eyes (40.0%) were combined ExPress device with cataract surgery. The mean intraocular pressure (IOP) (±standard deviation) at the last visit dropped from 24.6 mmHg (±8.3) to 13.9 mmHg (±4.5). There was a significant reduction in the number of postoperative glaucoma medications from 3.0 ± 0.5 to 1.3 (±0.7). In cases combined with cataract extraction, the patients required fewer anti-glaucoma medications. Complete success was achieved in 22 eyes (63%) and qualified success was achieved in 9 eyes (26%), whereas 4 eyes (11%) were considered a failure. The two most common complications encountered were hypotony (28.6%) and hyphema (11.4%). CONCLUSION: Among the studied population of patients, ExPress offers IOP reduction that is comparable to reported rates following standard trabeculectomy. Postoperative hyphema was encountered at a slightly higher rate.

Knowledge, attitude, and practice toward glaucoma and its management among adult Saudi patients.

PURPOSE: To present the level of knowledge, attitude, and practice (KAP) for glaucoma management and their determinants among adult Saudi patients. METHODS: The study was conducted between January and June 2017. Glaucoma patients from the ophthalmology clinic were interviewed. Demographics and disease-related information were noted. The questionnaire included four K questions, seven A questions, and six P squestions. The correct response of questions were summed for K, A, and P, and the percentile was calculated. K and P scores were graded as excellent (more than >75%), good (51%-75%), poor (26%-50%), and very poor (≤25%). If A score was >50%, it was termed as positive. RESULTS: We interviewed 263 adult glaucoma patients. Their mean age was 61.6 ± 14.2 years. The excellent grade of knowledge about glaucoma and its management was 63 (24% [95% confidence interval (CI) 18.8-29.1]). Poor grade of knowledge was 95 (36.1% [95% CI 30.3-41.9]). The attitude toward glaucoma and its management was positive in 89 (33.8% [95% CI 28.1-39.6]). The practice to manage glaucoma was of excellent grade in 10 (3.8% [95% CI 1.5-6.1]). The overall excellent grade of KAP glaucoma patients was 17.9% (13.2-22.5). Good practice for glaucoma management was associated with a history of glaucoma surgery (P < 0.001), longer duration of glaucoma (P = 0.02), and young age (P = 0.004). CONCLUSIONS: Low KAP about glaucoma disease and medication among Saudi glaucoma patients is a matter of concern. Strategies are needed to improve the KAP of glaucoma patients.

Overfiltering Bleb en Route to Annular Ciliochoroidal Effusion.

Annular ciliochoroidal effusion is a rare condition that can complicate trabeculectomy. We report a case of ciliochoroidal effusion mimicking aqueous misdirection after combined glaucoma and cataract surgery. A 75-year-old male with pseudoexfoliation, chronic angle-closure glaucoma, and advanced optic disc damage developed ciliochoroidal effusion after a combined trabeculectomy and phacoemulsification with intraocular lens implantation. The patient presented with overfiltering bleb, hypotony, and a uniformly shallow anterior chamber that mimicked aqueous misdirection in the clinical picture. Reformation of anterior chamber followed by revision of the bleb was performed. Ultrasound biomicroscopy confirmed the diagnosis. Atropine and steroid eye drops improved the condition. Ciliochoroidal effusion should be ruled out in hypotony with shallow anterior chamber post glaucoma surgery.

Ocular bleeding in an undiagnosed hemophiliac neonate causing irreversible loss of vision: A case report with review of the literature.

INTRODUCTION: Suprachoroidal hemorrhage is an unexpected complication after penetrating keratoplasty during childhood. We report the case of delayed suprachoroidal hemorrhage after penetrating keratoplasty in a neonate as the first manifestation of hemophilia. CASE REPORT: A 4-day-old neonate was referred to our hospital because of bilateral corneal opacities present since birth. A diagnosis of bilateral Peter's anomaly type 2 with right eye corneal perforation was made after examination. Appropriate treatment was commenced, and later, right eye therapeutic penetrating keratoplasty combined with lensectomy, and anterior vitrectomy was performed. This was complicated postoperatively with suprachoroidal hemorrhage and retinal detachment. Conservative management was advised due to poor visual prognosis. Three months later, the patient was found to have high intraocular pressure in the left eye and glaucoma surgery was recommended. Proper hematological investigations before glaucoma surgery in the left eye revealed a low level of factor VIII with normal levels of factor IX and von Willebrand's factor antigen. Therefore, a diagnosis of hemophilia type A was established. CONCLUSION: This case serves as a reminder that the occurrence of suprachoroidal hemorrhage, especially in the absence of other predisposing risk factors, should warrant detailed systemic assessment to exclude underlying bleeding disorders.

Glaucoma After Open-globe Injury at a Tertiary Care University Hospital: Cumulative Causes and Management.

PURPOSE: To investigate causes and treatment modalities of traumatic glaucoma after open-globe injury (OGI). MATERIALS AND METHODS: The medical records of all patients with postrepair follow-up of OGI at a tertiary care university hospital from January 1996 to December 2010 were reviewed. These patients had persistent elevated intraocular pressure (IOP) of >21 mm Hg at 2 consecutive visits, with or without optic disc damages. RESULTS: Over the 14-year study period, 41 eyes of 41 patients with repaired OGI that developed glaucoma were identified. In the early stage (within 1 mo), high IOP levels occurred owing to the presence of unremoved lens particles in 11 patients (26.8%), inflammation in 6 patients (14.6%), and hyphema in 3 patients (7.3%). In the intermediate stage (2 to 6 mo), the IOP increased owing to the presence of synechial angle closure in 9 patients (21.9%) and ghost cells in 3 patients (7.3%). In the late stage (>6 mo), the IOP rose owing to the presence of unremoved lens particles in 2 patients (4.8%), angle recession in 4 patients (9.7%), and synechial angle closure in 3 patients (7.3%). Surgical interventions included trabeculectomy in 9 eyes (22%), lens aspiration in 9 eyes (22%), cyclophotocoagulation (CPC) in 5 eyes (12.2%), anterior chamber washout in 3 eyes (7.3%), and tube surgery in 2 eyes (4.9%). CONCLUSIONS: Traumatic glaucoma is not uncommon long-term complication after OGI. It is important to inspect the association between the initial cause and achieving a successful treatment. Surgical intervention may be crucial in the majority of cases.

Ciliochoroidal effusion with persistent hypotony after trabectome surgery.

The trabectome is a novel form of ab interno trabeculectomy that ablates and remove the trabecular meshwork and the inner wall of Schlemm's canal and subsequently expose the natural drainage pathway (the collector channels) to aqueous humor. Complications associated with the trabectome are few and among them is transient hypotony. We report a case of a prolonged ciliochoroidal effusion with hypotony after ab interno trabeculectomy using the trabectome with cyclodialysis cleft detected by 80 MHz ultrasound biomicroscopy in a previously neither nonoperated nor traumatized eye. Transient hypotony has been reported after the trabectome surgery. Very few cases were associated with inadvertent intraoperative cyclodialysis, but there are no cases of prolonged hypotony with ciliochoroidal effusion with cyclodialysis. In our case, associated transient intraoperative and postoperative hypotony with a history of chronically high pressure along with the possible contribution of low-grade postoperative inflammation may have precipitated the ciliochoroidal effusion with prolonged hypotony associated with cyclodialysis.

Efficacy and safety of non-penetrating deep sclerectomy surgery in Saudi patients with uncontrolled open angle glaucoma.

OBJECTIVE: To investigate the efficacy and safety of deep sclerectomy (DS) in Saudi patients with primary and secondary open-angle glaucoma (OAG). METHODS: In this retrospective cohort study, a total of 194 eyes of 152 patients with OAG were consecutively enrolled to undergo DS with Mitomycin-C (MMC) at King Abdulaziz University Hospital, Jeddah, Kingdom of Saudi Arabia between January 2002 and September 2010. Age at surgery, gender, type of glaucoma, operated eye, previous ocular surgery, type of implant, pre and final visit visual acuities, intraocular pressure (IOP), number of anti-glaucoma medications, optic nerve cup/disc ratio, and complications were recorded. RESULTS: Cases were followed up to a mean of 60.9 (+/-49.7) months. The IOP reduced from a preoperative mean of 25.6 (+/-10.3) to final visit of 13.5 (+/-4), whereas the mean number of anti-glaucoma medication also reduced from 2.95 (+/-0.93) to 0.22 (+/-0.63), which was statistically significant (p<0.0001). Complete success was 82%, while overall success was 90.2%. Patients <50 years (p=0.003), high IOP (>/=21) at baseline (p=0.039), and being exposed to previous surgeries (p=0.047) were significant risk factors for failure, while combining cataract and converting to penetrating surgery have significantly improved the success rate (p=0.037). CONCLUSION: Deep sclerectomy provides significant IOP reduction with low rate of visual threatening complications in Saudi patients with open angle glaucoma.

Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation.

PURPOSE: Primary congenital glaucoma (PCG) is a severe form of glaucoma that presents early in life. PCG is a clinical and genetic entity that is distinct from juvenile forms of glaucoma. Inheritance is usually autosomal recessive and therefore the disease might be more common in societies where consanguinity is high. We studied the prevalence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) and latent-transforming growth factor beta-binding protein 2 (LTBP2) mutations in a group of Saudi PCG patients and attempted to correlate the mutation status with the disease severity. METHODS: Genomic DNA was collected from 54 unrelated Saudi PCG families (74 patients) who were diagnosed as having PCG by standard ophthalmological examinations and screened for mutations in CYP1B1 and LTBP2 by sequencing. We also examined the effect of mutations on the phenotype of patients with PCG (phenotype-genotype correlation). RESULTS: Mutations in CYP1B1 were identified in 41 (75.9%) of affected patients. No mutation in CYP1B1 was found in 13 (24.1%) affected persons. We detected a total of 13 mutations: 9 missense mutations (G61E, A119S, R390H, P437L, D441G, A443G, G466S, G466D, and R469W), 2 deletions (g.4238_4247del and g.7901_7913del), and 2 nonsense mutations (R355X and R444X). Two mutations, G466S and D441G, were novel. The G61E mutation was by far the most common mutation detected. PCG cases with CYP1B1 mutation(s) presented with a high degree of haze and greater cup/disc ratio than those with no mutation(s). Also, PCG cases with a mutation had higher post operative indices in terms of post operative haze and the need for anti-glaucoma medications. Additionally, the surgical success rate was higher 13/14 (92.9%) among cases without mutation than those with mutation 42/60 (70%). No mutation(s) were found in LTBP2 in any of the tested patients. CONCLUSIONS: CYP1B1 mutations are the predominant cause of PCG in the Saudi Arabian population with G61E as the dominant disease-associated allele. PCG cases with a mutation had higher last postoperative visit indices in terms of postoperative haze and the need for anti-glaucoma medications. This will be a valuable parameter in predicting disease severity earlier on and might help in predicting the surgical outcome.

The benefit of ultrasound biomicroscopy (UBM) in management of total Descemet's membrane detachment after deep sclerectomy surgery.

The purpose of this study is to report the importance of ultrasound biomicroscopy (UBM) in the diagnosis of Descemet's membrane detachment (DMD) and the efficacy of sulfur hexafluoride (SF6) gas in its management. DMD was identified by UBM in a 22-year-old woman with juvenile glaucoma who underwent deep sclerectomy surgery and developed severe corneal oedema postoperatively. SF6 gas 15% was injected into the anterior chamber. The procedure resulted in reattachment of Descemet's membrane and a completely clear cornea. DMD can be easily overlooked or misdiagnosed after non-penetrating glaucoma surgery. UBM is helpful in diagnosis and management of DMD and descemetopexy with SF6 gas can give good results.

Efficacy and safety of deep sclerectomy in uveitic glaucoma.

PURPOSE: To evaluate the safety and efficacy of deep sclerectomy with implant and mitomycin C in uveitic glaucoma. Design Prospective, noncomparative case study. PATIENTS AND METHODS: Nine patients (13 eyes) with uncontrolled uveitic glaucoma underwent deep sclerectomy with implant from 2002 to 2006. All patients had their uveitis controlled before and after surgery with anti-inflammatory therapy. Main outcome measures Control of intraocular pressure. A secondary outcome measure was the number of antiglaucoma medications required to achieve the desired intraocular pressure. Visual acuity and complication associated with the surgery were monitored. RESULTS: Mean follow-up was 21 months (range 12-54 months). Intraocular pressure (IOP) was reduced from a mean preoperative value of 28.7 mmHg to a mean postoperative value of 13.85 mmHg (Wilcoxon signed rank test P = 0.005). At the most recent visit, complete success was obtained in 84.6%, qualified success was obtained in 7.7%, and complete failure in 7.7%. Mean number of antiglaucoma medications was reduced from 3.07 to 0.2 (Wilcoxon signed rank test P = 0.001). Neodymium:YAG goniopuncture was performed in two eyes. Postoperative complications included transient hypotony with maculopathy in one eye, shallow choroidal effusions in two eyes, and progression of cataract in four eyes. CONCLUSION: Deep sclerectomy with implant in uveitic glaucoma appeared to be effective in controlling the IOP at short-term follow-up with no serious postoperative side-effects.

Bilateral acute angle closure glaucoma after hyperopic LASIK correction.

Acute angle closure glaucoma is unexpected complication following laser in situ keratomileusis (LASIK). We are reporting a 49-years-old lady that was presented to the emergency department with acute glaucoma in both eyes soon after LASIK correction. Diagnosis was made on detailed clinical history and examination, slit lamp examination, intraocular pressure measurement and gonioscopy. Laser iridotomy in both eyes succeeded in controlling the attack and normalizing the intraocular pressure (IOP) more than 6 months of follow-up. Prophylactic laser iridotomy is essential for narrow angle patients before LASIK surgery if refractive laser surgery is indicated.