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PURPOSE: To compare modified viscotrabeculotomy (VCO-Tbo) to modified trabeculotomy (Tbo) in late-onset primary congenital, juvenile open-angle, steroid-induced, and pigmentary glaucoma. METHODS: Patients were randomly assigned to VCO-Tbo and Tbo groups in this study. Intraocular pressure (IOP), antiglaucoma medications, and success/failure rates were assessed. A linear mixed model was used to compare the change trend at different follow-up times. Survival time was evaluated using the Kaplan-Meier graph and Log-Rank test. RESULTS: The mean IOP at 1, 3, and 12 months in the VCO-Tbo group was 14.1 ± 3.1, 15.9 ± 3 and 17 ± 3.1 mmHg, respectively. The mean IOP at the same time points in the Tbo group was 15.9 ± 3.3, 17.6 ± 3.5 and 18.4 ± 3.2 mmHg (P = 0.051, 0.058, 0.088, respectively). The VCO-Tbo group had significantly lower IOP after six months (16.5 ± 4.1 mmHg vs. 18.7 ± 3.8 mmHg; p = 0.031) and by the last visit (16.8 ± 2.1 mmHg vs. 18.8 ± 2 mmHg; p = 0.013). The reduction in the number of medications was significant in both groups compared to baseline (P < 0.001), but there was no significant difference between groups (P = 0.450). The complete and qualified success rate was 43.9% and 34.1% in the VCO-Tbo group and 46.8% and 10.6% in the Tbo group at the final follow-up (p = 0.040, and 0.039, respectively). CONCLUSION: Both procedures are effective in IOP and medication reduction. The survival time and efficacy of modified trabeculotomy can be augmented by injecting cohesive viscoelastic in the Schlemm's canal.

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PURPOSE: Primary Congenital Glaucoma (PCG) is a potentially blinding disease, and the search for the best surgical option always remains. This study investigated the efficacy of Bent Ab-interno Needle Goniectomy (BANG) compared to the established standard of traditional goniotomy. DESIGN: Parallel group Randomized Controlled Trial PARTICIPANTS: Infants with PCG aged one month to one year with similar clinical features in both eyes. INTERVENTION: The two eyes of eligible patients were randomized to either goniotomy or BANG using a 25-gauge needle bent as a reverse cystitome, and the surgeries were done on the same day in both eyes. Postoperatively each infant was followed up for a minimum period of one year. MAIN OUTCOME MEASURES: The primary outcomes measured were intraocular pressure (IOP) control and the requirement for antiglaucoma medications (AGMs). The secondary outcome measures included corneal clarity enhancement, axial length stability, incidence of surgical complications or the need for repeat surgery. RESULTS: Eight infants with both eyes eligible, were included. In each infant, one eye was randomized to BANG and the other to conventional goniotomy. The mean age was 7.6±3.6 months. There was no significant difference in the mean preoperative IOP (16.8 +8.87 mm Hg versus 17+6.0 mm Hg; p=0.48) in eyes randomized to goniotomy or BANG. The mean number of AGMs (1.7±1.11 versus 2+0.81 respectively; p=0.26) were similar in both groups. Postoperatively, the IOP at 6 months (14.05 + 4.1 vs 16.2+4.07; p=0.22) and one year (15.3 ± 3.4 versus 17.1 + 3.0; p=0.15) were similar in eyes that underwent goniotomy or BANG respectively. Both procedures demonstrated significant improvements in corneal clarity and maintained normal axial length growth. However, the BANG group required slightly more AGMs than the goniotomy group. There were no serious complications in either group. Both eyes of one patient required repeat surgery for IOP control and underwent a combined trabeculotomy with trabeculectomy at nine months and one year post-operatively, respectively. CONCLUSIONS: This study indicates that goniotomy remains an effective surgical treatment for PCG. The absence of discernible superiority in IOP control or overall outcomes implies that the added complexity of excising the trabecular meshwork in BANG may not confer additional benefits over the established approach.

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PURPOSE: To explore the frequency and positions of genetic mutations in CYP1B1 and FOXC1 in a Japanese population. STUDY DESIGN: Molecular genetic analysis. METHODS: Genomic DNA was extracted from 31 Japanese patients with childhood glaucoma (CG) from 29 families. We examined the CYP1B, FOXC1, and MYOC genes using Sanger sequencing and whole-exome sequencing (WES). RESULTS: For CYP1B1, we identified 9 families that harbored novel mutations, p.A202T, p.D274E, p.Q340*, and p.V420G; the remaining mutations had been previously reported. When mapped to the CYP1B1 protein structure, all mutations appeared to influence the enzymatic activity of CYP1B1 by provoking structural deformity. Five patients were homozygotes or compound heterozygotes, supporting the recessive inheritance of the CYP1B1 mutations in CG. In contrast, four patients were heterozygous for the CYP1B1 mutation, suggesting the presence of regulatory region mutations or strong modifiers. For the FOXC1 gene, we identified 3 novel mutations, p.Q23fs, p.Q70R, and p.E163*, all of which were identified in a heterozygous state. No mutation was found in the MYOC gene in these CG patients. All individuals with CYP1B1 and FOXC1 mutations were severely affected by early-onset CG. In the CYP1B1-, FOXC1-, and MYOC-negative families, we also searched for variants in the other candidate genes reported for CG through WES, but could not find any mutations in these genes. CONCLUSIONS: Our analyses of 29 CG families revealed 9 families with point mutations in the CYP1B1 gene, and four of those patients appeared to be heterozygotes, suggesting the presence of complex pathogenic mechanisms. FOXC1 appears to be another major causal gene of CG, indicating that panel sequencing of CYP1B1 and FOXC1 will be useful for diagnosis of CG in Japanese individuals.

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PURPOSE: To investigate long-term visual outcomes and factors associated with low vision in patients with childhood glaucoma. MATERIALS AND METHODS: A retrospective review was conducted on the medical records of pediatric glaucoma patients at the Ondokuz Mayis University Ophthalmology Clinic from 2005 to 2023. The patients were categorized into three groups: primary congenital glaucoma (PCG), secondary childhood glaucoma, and glaucoma following cataract surgery (GFCS). Groups were analyzed regarding visual acuity (VA), ocular conditions and comorbidities, and the cause of visual impairment. The study also investigated the potential risk factors associated with visual impairment. RESULTS: A total of 105 eyes of 60 patients with a mean age of 9.7 ± 5.5 years were included in the study. The mean VA in logMAR was 0.59 ± 0.52. At the final follow-up, 34.1% had good VA (≥ 20/50), 29.5% had moderate VA (20/50-20/200), and 36.4% had poor VA (< 20/200). The final mean intraocular pressure (IOP) was 16.2 ± 6.2 mmHg. Amblyopia was the leading cause of vision loss (38.2%), followed by glaucomatous damage (36.4%). Patients with GFCS had a higher rate of visual impairment (42.4%) and refractive error. The results of the regression analysis showed that low vision was associated with undergoing more than two surgeries, high IOP at baseline, high initial and final cup-to-disc (C/D) ratio, and high initial central corneal thickness (CCT) (CI 95%, p = 0.018, p= 0.017, p = 0.013, p = 0.003, p = 0.001, respectively). CONCLUSION: Good VA can be achieved in 34.1% of childhood glaucoma cases. However, the VA prognosis may be worse in patients with GFCS. Achieving good visual outcomes in childhood glaucoma requires timely and effective treatment, consideration of risk factors, and management of amblyopia and ocular comorbidities.

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Development of the anterior segment of the eye requires reciprocal sequential interactions between the arising tissues, facilitated by numerous genetic factors. Disruption of any of these processes results in congenital anomalies in the affected tissue(s) leading to anterior segment disorders (ASD) including aniridia, Axenfeld-Rieger anomaly, congenital corneal opacities (Peters anomaly, cornea plana, congenital primary aphakia), and primary congenital glaucoma. Current understanding of the genetic factors involved in ASD remains incomplete, with approximately 50% overall receiving a genetic diagnosis. While some genes are strongly associated with a specific clinical diagnosis, the majority of known factors are linked with highly variable phenotypic presentations, with pathogenic variants in FOXC1, CYP1B1, and PITX2 associated with the broadest spectrum of ASD conditions. This review discusses typical clinical presentations including associated systemic features of various forms of ASD; the latest functional data and genotype-phenotype correlations related to 25 ASD factors including newly identified genes; promising novel candidates; and current and emerging treatments for these complex conditions. Recent developments of interest in the genetics of ASD include identification of phenotypic expansions for several factors, discovery of multiple modes of inheritance for some genes, and novel mechanisms including a growing number of non-coding variants and alleles affecting specific domains/residues and requiring further studies.

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Primary congenital glaucoma (PCG), a developmental glaucoma occurring due to angle anomaly, earns growing concerns among ophthalmologists for its vision-damaging attribute. The incidence of PCG varies among races and geographic regions and is mostly genetically associated. Theories have been posed in attempt to address the etiology of this congenital maldevelopment and in the meanwhile providing evidence for feasibility of PCG surgeries. In regard to the clinical aspects of this entity, both the clinical characteristics and general principals of management are introduced, with angle surgeries highlighted for clarifying details including their success rates, key points for a successful surgical intervention, postoperative management, and follow-up strategies. Taking patients' vision-associated quality of life into consideration, we stressed that further perceptual learning and low vision rehabilitation are momentous. However, much has yet to be elucidated in respect of the truly comprehensive pathogenesis underneath as well as means by which clinical outcomes of PCG can be further improved. We are now looking forward to innovative therapeutic approaches like gene therapy in specific genes in the future, with the hope of improving their life-long visual quality in those young patients.

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PURPOSE: To evaluate the safety and efficacy of the PAUL Glaucoma Implant (PGI) for managing refractory primary congenital glaucoma (PCG) over a one-year period. STUDY DESIGN: Retrospective. METHODS: A study was conducted using the medical records of thirty eyes of 17 patients who underwent PGI surgery for the treatment of refractory PCG. Primary outcome measures included failure criteria such as intraocular pressure (IOP) > 21 mm Hg, < 20% IOP reduction, necessity for further glaucoma intervention, implant removal, or loss of vision. Secondary outcomes focused on mean IOP, average number of glaucoma medications, best corrected visual acuity (logMAR), and incidence of complications. RESULTS: The mean preoperative IOP of 38.8 ± 9.2 mmHg significantly decreased to 16.1 ± 3.3 mmHg at 12 months postoperatively (p < 0.001). The average number of glaucoma medications reduced from 3.6 ± 0.5 preoperatively to 0.9 ± 1.2 at 12 months post-op. Visual acuity remained stable in 24 eyes, decreased in 4, and increased in 2. Early postoperative complications occurred in 13.3% of patients, but no late complications were reported. The cumulative success rate was 86.6%. CONCLUSION: The PGI appears to be a safe and effective option for managing refractory primary congenital glaucoma, demonstrating significant IOP reduction and decreased dependence on glaucoma medications over a one-year period, with a high success rate and manageable complication profile.

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Primary congenital glaucoma (PCG) is one of the leading causes of visual damage and blindness, severely affecting the quality of life of affected children. It is characterized by cupping of the optic disc and loss of ganglion cells due to elevated intraocular pressure. While most PCG patients exhibit epiphora, photophobia, and buphthalmos with corneal opacity, variability in phenotypic manifestations is not uncommon. Prompt diagnosis and treatment of PCG affected individuals becomes relevant to preserve visual function throughout their lives. Most PCG cases are sporadic or autosomal recessive; however, an incompletely dominant autosomal dominant form arising from mutations in the TEK gene has recently been demonstrated. Here, we describe the clinical and mutational features of a cohort of Mexican patients with TEK-related PCG. Our results support the involvement of the TEK gene as an important cause of the disease in our ethnic group and expand the mutational spectrum causing PCG by reporting 10 novel disease-causing variants.

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OBJECTIVE: To describe the inheritance pattern and clinical variability of primary congenital glaucoma (PCG) in a family with two affected siblings. MATERIALS AND METHODS: Two sisters diagnosed at birth with bilateral PCG, whose father had bilateral PCG and mother had bilateral microphthalmus, were subjected to a familial genetic study and ophthalmologic follow-up including intraocular pressure (IOP) measurement, and collection of biometric and cup-to-disc ratio data. RESULTS: The inheritance pattern was autosomal recessive in compound heterozygosis. The sisters were found to be carriers of three pathogenic allele variants of the CYP1B1 gene: c.317C>A (p.Ala106Asp) and c.1345delG (p.Asp449MetfsTer8) in one patient (10 years) and c.1345delG (p.Asp449MetfsTer8) and c.202_209delCAGGCGGC (p.Gln68Serfs153Ter) in her older sister (12 years). Surgical histories included: three goniotomies and two Ahmed valves in each eye, and two trabeculectomies and a pupilloplasty in the right eye in the 10-year old; and one goniotomy, trabeculectomy and three Ahmed valves in each eye in the older sister. Currently, both sisters have a controlled intraocular pressure of 18-20 mmHg in both eyes. The father is blind in both eyes and carries two variants c.317C>A (p.Ala106Asp) and c.202_209delCAGGCGGC (p.Gln68Serfs153Ter). The mother with a single variant c.1345delG (p.Asp440MetfsTer8) has a prosthetic right eye and microphthalmus left eye. CONCLUSIONS: The sisters were found to show two different allelic CYP1B1 variants (compound heterozygosis) with different repercussions on the clinical severity of PCG. These findings highlight the importance of genetic screening of affected families.

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BACKGROUND: This retrospective study aimed to evaluate the efficacy and safety of gonioscopy-assisted transluminal trabeculotomy (GATT) in Chinese patients with primary congenital glaucoma (PCG) and identify factors influencing surgical success. METHODS: Fourteen patients (24 eyes) diagnosed with PCG who underwent gonioscopy-assisted transluminal trabeculotomy were recruited, and data on intraocular pressure (IOP), antiglaucoma medication, surgery-related complications, and additional treatments were collected during preoperative and postoperative visits. Surgical success was defined as IOP ≤ 21 mmHg and a reduction of > 30% from baseline, with (partial success) or without (complete success) antiglaucoma medication. RESULTS: Mean preoperative IOP was 30.41 ± 6.09 mmHg. At the final visit, mean IOP reduction was 16.1 ± 9.1 mmHg (52%), and 19 of 24 eyes were topical medication-free. IOP was significantly decreased at each postoperative visit compared with baseline (P < 0.05 for all time points). Cumulative proportions of complete and partial success were 79.2% and 95.8%, respectively, at three years postsurgery. Patients without prior antiglaucoma procedures, without postoperative IOP spikes, and those undergoing complete trabeculotomy exhibited improved surgical prognosis. No permanent vision-threatening complications occurred in the 24 eyes by the end of the respective follow-ups. CONCLUSION: Gonioscopy-assisted transluminal trabeculotomy emerged as a safe and effective procedure for PCG treatment, characterized by outstanding IOP reduction efficacy and high surgical success rates.

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AIM: To report on the outcome of subsequent interventions after failed initial intervention for primary congenital glaucoma (PCG). METHODS: Retrospective chart review of children presenting with PCG and failed the initial glaucoma surgery in Alexandria Main University Hospital from 2005 to 2017. The data included demographics, preoperative, operative and postoperative clinical characteristics. Success was defined as IOP<16mmHg and <20% from the presenting IOP and C/D ratio like or better than presentation. RESULTS: The charts of 531 (260 right, 49%) eyes of 360 (224 males, 62%) children presenting with PCG and failed the initial glaucoma surgery (58 [31 right, 53%] eyes [10.9%] of 50 [28 males, 56%] children) revealed that at initial presentation, the mean±standard deviation (range, median) of the age of the children subjected to one successful glaucoma procedure and the study children was 8.6±11.7 (0.6-109, 5.2) and 4.9±6.1 (0.5-34.4, 3.0) months, respectively. Each of the study eyes was subjected to 2.6±0.8 (2-5.2) glaucoma procedures. The mean±standard deviation (range, median) duration between the initial and second glaucoma surgery and the duration of follow-up was 6.9±7.8 (0.7-39,3.9) and 61.5±32.1 (12.0-139.1, 60.1) months, respectively. At the final follow-up visit success was reported in 41 (70.1%) eyes by IOP<16mmHg criterion, 39 (67.2%) eyes by IOP>20% reduction criterion and in 28 (out of 35 eyes, 80.0%) by the optic nerve condition (C/D ratio) criterion. Success by all 3 criteria was reported in 25 (out of 35 eyes, 71%) eyes. CONCLUSIONS: A repeat glaucoma surgical procedure maybe needed in up to 11% of operated PCG eyes, with the subsequent glaucoma surgical procedures being successful by about 70%.

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BACKGROUND: Childhood glaucoma is a major cause of childhood blindness worldwide. The profile of childhood glaucoma has not been well characterized in sub-Saharan Africa. Thus, this study was designed to describe demographics, clinical features, managements of childhood glaucoma, and improvements in visual acuity (VA) and intraocular pressure (IOP) from baseline to final visit. METHODS: This retrospective study included glaucoma patients below 18 years old who were diagnosed between September 2019 to August 2022. Childhood glaucoma diagnosis and classification was made as per the Childhood Glaucoma Research Network Classification (CGRN). RESULTS: A total of 105 children (181 eyes) were diagnosed with glaucoma. The most common type of childhood glaucoma was primary congenital glaucoma (PCG) constituting (42%, n = 76 eyes, 95% confidence interval (CI), 34.7-49.5%; P = 0.037), followed by glaucoma suspect (22.1%, n = 40 eyes, 95% CI, 16.3-28.9%; P < 0.001) and juvenile open-angle glaucoma (JOAG) (15.5%, n = 28 eyes, 95% CI, 10.5-21.6%; P < 0.001). While the most common type of secondary glaucoma was steroid-induced glaucoma, followed by glaucoma following cataract surgery. Bilateral glaucoma was found in 72.4% (n = 76 children, 95% CI, 62.8-80.7%; P < 0.001) of children. In both primary and secondary glaucoma, boys were affected more than girls, in ratio of 2:1 and 2.7:1, respectively. The mean age at presentation for patients with PCG was 2.7 years. Close to 93.4% (71) of PCG eyes were managed surgically, of which majority underwent combined trabeculotomy and trabeculectomy (CTT). Most of secondary glaucoma cases were treated medically. Overall, 85.3% (111) of eyes had successful control of IOP ≤ 21 mmHg. CONCLUSION: PCG was the most common type of childhood glaucoma. One of a well-recognized challenge in developing countries, late presentation of patients with PCG, was also observed in our study. Which highlights, the need of increasing access to eye-care service and awareness of childhood glaucoma as a major public health issue. Steroid-induced glaucoma was the most common type of secondary glaucoma; appropriate measures should be taken to prevent this preventable glaucoma.

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INTRODUCTION: Primary congenital glaucoma causes vision loss if intraocular pressure is uncontrolled. Nonpenetrating deep sclerectomy is effective in treating primary congenital glaucoma. However, the effects of inadvertent trabeculodescemetic window perforation remain unclear. METHODS: This retrospective cohort study included patients with primary congenital glaucoma who underwent nonpenetrating deep sclerectomy between 2014 and 2021. The perforation group had intraoperative trabeculodescemetic window perforations; the non-perforation group did not. The primary outcome was intraocular pressure between the groups over 15 months. The secondary outcomes included surgical success and complications. RESULTS: The study included 74 eyes of 44 patients. The cohort comprised 31 perforated and 43 non-perforated eyes. Both groups showed significant intraocular pressure reduction without significant between-group differences in complete (68 vs. 77%), qualified (19 vs. 9%), or failed (13 vs. 14%) treatments. The median intraocular pressure decreased from 39 to 14 mmHg in the perforation group and 35 to 12 mmHg in the non-perforation group. Of the 74 treated eyes, 68 (92%) showed no complications. CONCLUSIONS: An inadvertent trabeculodescemetic window perforation during nonpenetrating deep sclerectomy for primary congenital glaucoma did not significantly affect intraocular pressure outcomes compared to non-perforated cases over 15 months. Nonpenetrating deep sclerectomy reduced intraocular pressure regardless of intraoperative perforation in patients with primary congenital glaucoma. Perforation of the trabeculodescemetic window was associated with a low incidence of postoperative complications.

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PURPOSE: Evaluation of long-term functional and structural outcomes in patients with primary congenital glaucoma (PCG) based on visual acuity (VA), visual field (VF) using standard automated perimetry, and peripapillary retinal nerve fibre layer thickness (pRNFL). METHODS: We retrospectively reviewed medical records of all patients diagnosed with PCG in Denmark from 1977 to 2016. Severe vision loss was defined as VA <6/60 and/or VF >20 decibels (dB). Prognostic factors were evaluated in a correlation matrix. RESULTS: The median age of the 94 patients (153 PCG eyes) was 12 years (IQR 9-16). In PCG eyes 62% had VA ≥6/18 but 22% had <6/60. VA in the better seeing eye was ≥6/18 in 90% and <6/60 in 5%. VF was measured in 59 PCG eyes and the median mean defect was 5.1 dB (IQR 2.1-9.6) with 52% better than 6 dB and 9% worse than 20 dB. Generalized pRNFL was reduced below the age-expected 1st percentile in 29% of the 58 PCG eyes where pRNFL was measured. Poor VA, poor VF and reduced pRNFL were all correlated (p = 0.0001). More surgeries (p < 0.0001) and longer diagnostic delay (p = 0.004) were associated with poorer vision and to a lesser degree with poor VF pRNFL. CONCLUSION: In Denmark, most patients with bilateral PCG retain VA ≥6/18 in the better seeing eye. Poor VA was associated with poor VF. Longer diagnostic delay and more surgeries were associated with a poorer prognosis.

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PURPOSE: To evaluate the anterior segment structures using ultrasound biomicroscopy (UBM) in primary congenital glaucoma (PCG) and explore their correlation with disease severity and surgical outcomes. METHODS: Clinical information of PCG patients who underwent UBM prior to their first glaucoma surgeries from September 2014 to March 2021 were reviewed. The study included 214 UBM images of 154 PCG eyes and 60 fellow unaffected eyes. Anterior segment characteristics were analyzed. UBM parameters, including the iris thickness (IT) at variant distances from the pupil edge and iris root, anterior chamber depth (ACD), and pupil diameter (PD), were compared between two groups and their relationship with clinical factors and surgical outcomes were analyzed in PCG eyes. RESULTS: PCG eyes had unclear scleral spur, thin iris, wide anterior chamber angle, deep anterior chamber, rarefied ciliary body, elongated ciliary processes, and abnormal anterior iris insertion. ITs were thinner, ACD was deeper, and PD was larger in PCG eyes than fellow unaffected eyes (all P < 0.001). In PCG eyes, thinner ITs correlated with bilateral involvement and earlier age at presentation, and larger PD correlated with earlier age at presentation (P = 0.030) and higher intraocular pressure (P < 0.001). Thinner IT2 (P = 0.046) and larger PD (P = 0.049) were identified as risk factors for surgical failure. CONCLUSION: UBM is a powerful technique to exam anterior segment structures in PCG. The anatomical features are associated with disease severity and surgical outcomes, providing essential clinical insights.

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INTRODUCTION: Glaucoma is a main cause of blindness globally. In Saudi Arabia, congenital glaucoma is believed to affect 1 in every 2500 live births. In this study, we identified the adherence and evaluated the factors associated with non-compliance (non-adherence) to recommended follow-up appointments at King Abdulaziz University Hospital, a tertiary centre in Jeddah, Saudi Arabia. METHODS: The medical records of paediatric patients diagnosed with glaucoma between 2009 and April 2022 were reviewed retrospectively. Demographic information, visit dates, scheduled follow-ups, and specific patients' glaucoma histories were all extracted from the records. Patients were categorized as adherent, non-adherent, or lost to tertiary follow-up (LTTF). RESULTS: Of 91 patients, 52 (57.1%) were adherent, 20 (22%) were non-adherent, and 19 (20.9%) were LTTF. Most adherent patients were Saudi (59.3% adherent, 26.5% non-adherent, 14.2% LTTF) (P = 0.02). Adherent patients were far likelier to live further away from the ophthalmology clinic (P = 0.03). The frequency of clinical encounters was statistically significantly different between adherence statuses. The non-adherent group had a higher average number of prescribed ocular medications (P = 0.03). The adherent patients had more frequent visits with elevated intraocular pressure (P = 0.02). CONCLUSION: A significantly high percentage of paediatric glaucoma patients were non-adherent to follow-up visits. When determining the non-compliance risk among paediatric glaucoma patients, physicians must consider the factors contributing to adherence status, which include nationality, distance to the ophthalmology clinic, and number of prescribed ocular medications.

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Purpose: This study focused on the genetic screening of Myocilin (MYOC), Cytochrome P450 family 1 subfamily B member 1 (CYP1B1), Optineurin (OPTN), and SIX homeobox 6 (SIX6) genes in a family with coexistence of primary congenital glaucoma (PCG) and juvenile open-angle glaucoma (JOAG). Methods: Sanger sequencing was used to examine the coding region of all four genes. Six different online available algorithms were used for the pathogenicity prediction of missense variant. Structural analysis was done using Garnier-Osguthorpe-Robson (GOR), PyMol, ChimeraX, and Molecular Dynamic (MD) Simulations (using Graphics Processing Unit (GPU)-enabled Desmond module of Schrödinger). Results: There were a total of three sequence variants within the family. All seven algorithms determined that a single mutation, G538E, in the OPTN gene is pathogenic. The loops connecting the strands became more flexible, as predicted structurally and functionally by pathogenic mutations. Mutations create perturbations and conformational rearrangements in proteins, hence impairing their functioning. Conclusion: In this study, we describe a North Indian family in which members were having JOAG and PCG due to a rare homozygous/heterozygous mutation in OPTN. The coexistence of two types of glaucoma within a single pedigree suggests that certain OPTN mutations may be responsible for the onset of different glaucoma phenotypes.

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PURPOSE: To estimate the long-term surgical and visual outcomes in patients with primary congenital glaucoma (PCG) who completed at least 20 years of follow-up. DESIGN: Retrospective study. PARTICIPANTS: Two hundred twenty eyes of 121 patients undergoing surgery for PCG between January 1991 and December 2000 and who returned for a follow-up visit from January 2021 through January 2022. METHODS: Retrospective review of medical records of patients who underwent primary combined trabeculotomy-trabeculectomy (CTT) without mitomycin C as an initial procedure. Success was defined as complete when intraocular pressure (IOP) was ≥ 6 mmHg and ≤ 21 mmHg without glaucoma medication and as qualified when up to 2 glaucoma medications were required. Failure was defined as uncontrolled IOP with more than 2 glaucoma medications, need for a second IOP-lowering procedure, chronic hypotony (IOP < 6 mmHg on 2 consecutive visits), or any sight-threatening complication. A mixed-effects model using maximum likelihood estimation was used in estimation of eye-based variables and to make comparisons between different visits. Kaplan-Meier survival analysis was used to estimate the probabilities of surgical and functional successes. Cox proportional hazards regression using sandwich clustered estimation was used to evaluate risk factors for failure and poor visual outcome. MAIN OUTCOME MEASURES: Primary outcome measure was the proportion of patients who demonstrated complete success over the 20-year follow-up. Secondary outcome measures included rate of surgical failure and need for reoperation for glaucoma, visual acuity, refractive errors, risk factors for poor outcome, and complications. RESULTS: Kaplan-Meier survival analysis revealed 1-year, 10-year, and 20-year complete success rates of 90.7%, 78.9%, and 44.5%, respectively. In univariate analysis, surgical failure was higher among patients with any additional non-glaucoma intraocular surgery. None of the clinical parameters were associated significantly with failure in multivariable analysis. Overall, the proportion of eyes with good, fair, and poor visual outcomes was 33.2%, 16.4%, and 50.4%, respectively. Myopia was seen in 68.9% eyes. Twenty-eight eyes of those who underwent primary CTT (14.4%) required second surgery for IOP control. No significant intraoperative complications occurred. Six eyes required enucleation because of painful blind eye. CONCLUSIONS: In this large cohort of patients with PCG, CTT is a useful procedure. It provides good IOP control and moderate visual recovery that remained over a 20-year follow-up after surgery. FINANCIAL DISCLOSURE(S): The author(s) have no proprietary or commercial interest in any materials discussed in this article.

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Purpose: To ascertain the prevalence and clinical features of the various types of childhood glaucoma at a tertiary eye care hospital in Northern India. Materials and methods: Retrospective chart review of all children less than 16 years of age with childhood glaucoma who presented from 1st April 2014 to 31st March 2019, who was diagnosed to have any subtype of childhood glaucoma as per Childhood Glaucoma Research Network (CGRN) classification and advised appropriate management. Results: Out of 405 children with childhood glaucoma, 36% had primary glaucoma, whereas the rest had secondary glaucoma. Primary congenital glaucoma (PCG) was the most common form of primary glaucoma. Glaucoma associated with acquired conditions was the most common cause of secondary glaucoma. Primary glaucoma was mostly bilateral in contrast to secondary glaucoma. The most common age of presentation with primary glaucoma was <1 year of age, and in children with secondary glaucoma was 11-16 years. On presentation, 80% of eyes had intraocular pressure (IOP) of >20 mm Hg and 70% had cupping of >0.7. Eyes with PCG were primarily managed surgically. Conclusion: In our cohort, PCG was the most common primary childhood glaucoma. Traumatic glaucoma was the most common secondary glaucoma. Since childhood glaucoma is an important cause of visual morbidity in children, its timely diagnosis and prompt management are essential to prevent irreversible visual loss. Clinical significance: Understanding the disease pattern, their presenting features, and the proportion of different types of childhood glaucoma can help in planning appropriate eye care services, create awareness and better allocate resources to plan appropriate management strategies. Screening programs and counseling of parents should also be strengthened. How to cite this article: Dubey S, Jain K, Pegu J, et al. Profile of Childhood Glaucoma Attending a Tertiary Eye Care Center in Northern India. J Curr Glaucoma Pract 2023;17(2):68-74.

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BACKGROUND: Cytokine profile in patients with primary open-angle glaucoma (POAG) differs from that in healthy controls. Due to the different pathophysiological mechanisms involved in the genesis of primary congenital glaucoma (PCG) and POAG, it is possible that the cytokine profile could also differ. The main objective of this study was to compare the concentrations of cytokines in the aqueous humor of patients with PCG with those of POAG patients and a control group. METHODS: A cross-sectional study was conducted. Aqueous humor samples were taken from PCG and POAG patients eligible for glaucoma or cataract surgery and from patients undergoing cataract surgery. Twenty-seven cytokines were analyzed using the Human Cytokine 27-Plex Immunoassay Kit (Bio-Rad Laboratories, Hercules, CA, USA). RESULTS: A total of 107 subjects were included: patients with PCG (n = 19), patients with POAG (n = 54), and a control group (CG) of patients undergoing cataract surgery (n = 34). Most cytokines measured in aqueous humor in PCG presented decreased values compared with POAG and controls. A statistically significant difference was observed in IL-1ra, IL-2, IL-5, IL-7, IL-8, IL-10, IL-12, IL-15, IL-17A, Eotaxin, FGF basic, G-CSF, GM-CSF, IFN-γ, MIP-1α, PDGF-bb, MIP-1ß, RANTES, TNF-α, and VEGF. CONCLUSION: PCG patients have a cytokine profile in aqueous humor different from POAG patients and patients without glaucoma, characterized by lower concentrations of multiple cytokines.