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Purpose: To describe the demographics, clinical characteristics, and management of corneal hydrops in patients presenting to a multi-tier ophthalmology hospital network in India. Design: Cross-sectional hospital-based study. Methods: Of the total of 3,140,941 new patients presenting between October 2010 and March 2022, patients with a clinical diagnosis of corneal hydrops in at least one eye were included in the study. All the data was collected using an electronic medical record system. Results: 1291 eyes of 1110 patients were diagnosed with corneal hydrops and included in the study and 961 patients (83.69%) had a unilateral affliction. Corneal hydrops was noted to be significantly more common in males (62.43%) and adults (62.7%). The most common age group at presentation was during the second decade of life with 472 (42.52%) patients. They were more commonly from the higher socio-economic status (77.3%) and from the urban geography (44.23%). In the 1291 eyes, 567 (43.92%) eyes had a visual impairment of blindness (> 20/400–20/1200) followed by moderate visual impairment (> 20/70–20/200) in 166 (12.86%) eyes. Overall, the most common etiology was keratoconus in 1,082 (83.81%) eyes followed by primary congenital glaucoma (PCG) in 91 (7.05%) eyes. Surgical intervention to hasten the recovery of hydrops was performed in 7.82% of eyes with ectasia and as a definite management in 7.05% eyes with PCG. Visual rehabilitation was with contact lenses in 29.1% eyes and keratoplasty in 13.94% eyes. Conclusion: Corneal hydrops is predominantly unilateral and is more common in males. Keratoconus was the commonest etiological condition; however, the risk of hydrops was highest in keratoglobus, followed by PMD. Most affected age was the second decade of life and visual impairment was severe in majority (60%). A surgical intervention was performed in a third of the cases. [ABSTRACT FROM AUTHOR]

Objectives: To determine the efficacy of modified combined trabeculotomy-trabeculectomy (CTT) with mitomycin-C (MMC) versus conventional CTT with MMC for intraocular pressure (IOP) reduction in patients with primary congenital glaucoma (PCG). Methods: This interventional study was carried out in The Institute of Ophthalmology, Lahore from January 2018 to June 2019. We included 70 patients of either gender, with the age range from birth to ten years and with PCG having IOP >30 mm Hg. These patients were divided in groups A and B with 35 patients in each group. Patients in Group-A underwent modified CTT with MMC and in Group-B conventional CTT with MMC was carried out. Results: The mean age of our patients was 15.17 ± 12.39 months. Regarding gender, 57 (81.4%) were males and 13 (18.6%) were females. Baseline mean IOP in Group-A was 32.49 ± 1.01 mm Hg whereas in Group-B mean IOP was 31.97 ± 1.04 mm Hg. After one month, the mean IOP was 27.60 ± 1.72 mm Hg in Group-A, whereas mean IOP was 27.40 ± 1.82 mmHg in Group-B. After three months, the mean IOP was 21.63 ± 1.09 mm Hg in Group-A, whereas 20.97 ± 1.12 mm Hg in Group-B. In Group-A efficacy was achieved in 14 (40%) patients whereas in Group-B efficacy was achieved in 25 (71.4%) patients. Conclusion: Our study revealed that conventional CTT with MMC showed better efficacy than modified CTT with MMC for reduction of IOP in PCG. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Primary congenital glaucoma (PCG) occurs in children due to developmental abnormalities in the trabecular meshwork and anterior chamber angle. Previous studies have implicated rare variants in CYP1B1, LTBP2, and TEK and their interactions with MYOC, FOXC1, and PRSS56 in the genetic complexity and clinical heterogeneity of PCG. Given that some of the gene-encoded proteins are localized in the centrosomes (MYOC) and perform ciliary functions (TEK), we explored the involvement of a core centrosomal protein, CEP164, which is responsible for ocular development and regulation of intraocular pressure. Deep sequencing of CEP164 in a PCG cohort devoid of homozygous mutations in candidate genes (n = 298) and controls (n = 1757) revealed CEP164 rare pathogenic variants in 16 cases (5.36%). Co-occurrences of heterozygous alleles of CEP164 with other genes were seen in four cases (1.34%), and a physical interaction was noted for CEP164 and CYP1B1 in HEK293 cells. Cases of co-harboring alleles of the CEP164 and other genes had a poor prognosis compared with those with a single copy of the CEP164 allele. We also screened INPP5E, which synergistically interacts with CEP164, and observed a lower frequency of pathogenic variants (0.67%). Our data suggest the potential involvements of CEP164 and INPP5E and the yet unexplored cilia-centrosomal functions in PCG pathogenesis. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Anterior segment dysgeneses are congenital ocular anomalies that involve the cornea, iris, anterior chamber, iridicorneal angle structures, and ciliary body. Management highly varies and often depends on the extent of cornea and lens involvement and glaucoma diagnosis. A coordinated approach between pediatric ophthalmology, cornea, retina, and glaucoma specialists may be required to minimize complications and optimize results. A review of the clinical findings of primary congenital glaucoma, congenital aniridia, Axenfeld-Rieger syndrome, Peters anomaly, sclerocornea, congenital ectropion uvea, and megalocornea/megalophthalmos will be followed by the current management of these diseases. For optimal outcomes, these diseases often require a multi-specialty approach incorporating glaucoma, cornea, and retina specialists with pediatric ophthalmologists. However, there is a critical shortage of pediatric ophthalmologists and few adult sub-specialists have an interest and desire to incorporate children into their practices. A greater emphasis on pediatric eye diseases during training and exposure to anterior segment dysgeneses is needed to provide the optimal care for these rare conditions. [ABSTRACT FROM AUTHOR]

This publication continues a review published in December 2023 about the genetic epidemiology and genotype-phenotype correlations in primary congenital glaucoma (PCG) worldwide, and presents data from East and South Asia, Western Europe and Russia. Analysis of the incidence of PCG data in these regions shows that the rates for Western Europe, the European part of Russia and East Asia are comparable and average 1:10,000–18,000 newborns and higher in ethnically mixed groups. On the territory of South Asia, the minimum number of children with PCG was recorded in Nepal, and the maximum in India. The majority of researchers talk about the predominance of bilateral process in 62 to 99 % cases. As a rule, there is a slight predominance of boys among patients with PCG; authors from India and France report approximately the same number of boys and girls, and German scientists have found a higher prevalence of PCG among girls. If we talk about the phenotype of the disease, almost all researchers note a more severe course in subgroups with the presence of CYP1B1 mutations than in patients who do not have a mutation in this gene. As for the genetic causes of PCG, the most common are mutations in the CYP1B1 gene, accounting for up to a third of cases in India, Pakistan, Western Europe and the European part of Russia. In East Asian patients, mutations in the CYP1B1 gene are most likely not the main ones in the pathogenesis of PCG, because are found much less frequently and often only in one allele. Chinese scientists say that it is necessary to pay attention to mutations TEK and ZC2HC1C, VPS13D, PGF.

OBJECTIVE: To identify the pathogenic alleles in primary congenital glaucoma patients for early cure of the disease METHODOLOGY: A cross-sectional descriptive study was carried out after approval from the ethical committee of SIOVS from December 2022 to November 2023 at Sindh Institute of Ophthalmology & Visual Sciences, Hyderabad. The consanguineous pedigree consisting of more than one affected was included, and the pedigree consists only one affected or secondary cause of vision loss was excluded. After getting informed consent, ten cc blood samples from all available participants in the pedigree were drawn, and DNA was extracted. The ARMS Assay and Sanger sequencing methods were adapted to analyze the CYP1B1 gen. RESULTS: In the present study, one novel c.1187C>T, p.Pro396Leu and one reported c.1169G>A, p.Arg390His allele in CYP1B1 gene were found in two isolated pedigrees enrolled from Sindh Pakistan. ARMS Assay method and the Sanger sequencing method were adopted to detect pathogenic variants. Bioinformatics tools were used to analyze the pathogenesis of identified alleles and compare phenotype -genotype correlation. CONCLUSION: The findings of novel and frequently reported mutations have a significant role in advancing genetic testing protocols, enabling more accurate targeting of diagnoses and identified alleles that may be added to existing repositories of the genetic database. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Abstract 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

OBJECTIVE: To identify the pathogenic alleles in primary congenital glaucoma patients for early cure of the disease METHODOLOGY: A cross-sectional descriptive study was carried out after approval from the ethical committee of SIOVS from December 2022 to November 2023 at Sindh Institute of Ophthalmology & Visual Sciences, Hyderabad. The consanguineous pedigree consisting of more than one affected was included, and the pedigree consists only one affected or secondary cause of vision loss was excluded. After getting informed consent, ten cc blood samples from all available participants in the pedigree were drawn, and DNA was extracted. The ARMS Assay and Sanger sequencing methods were adapted to analyze the CYP1B1 gen. RESULTS: In the present study, one novel c.1187C>T, p.Pro396Leu and one reported c.1169G>A, p.Arg390His allele in CYP1B1 gene were found in two isolated pedigrees enrolled from Sindh Pakistan. ARMS Assay method and the Sanger sequencing method were adopted to detect pathogenic variants. Bioinformatics tools were used to analyze the pathogenesis of identified alleles and compare phenotype-genotype correlation. CONCLUSION: The findings of novel and frequently reported mutations have a significant role in advancing genetic testing protocols, enabling more accurate targeting of diagnoses and identified alleles that may be added to existing repositories of the genetic database

Abstract 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

Abstract 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.

To understand the current situation with the genetic epidemiology of primary congenital glaucoma (PCG) in the world, as well as to identify genotype-phenotype correlations, 87 publications were analyzed from the Pubmed and elibrary databases, mainly the latest 5 years. This publication presents the first part of the analysis, covering Arab and African countries, Turkey, the USA, Brazil, Australia and New Zealand. The second part of the review, which will be published in early 2024, will focus on data from East and South Asia, Western Europe and Russia. The highest incidence of PCG is typical for Arab countries, which is associated with the presence of a significant number of consanguineous marriages in these countries. In most countries, boys predominated among patients with PCG, and the process was often bilateral. In Australia female patients predominate. The PCG phenotype is more severe in patients with CYP1B1 mutations (early onset, bilateral involvement) than in patients without mutations, and in patients with consanguineous parents than in children from unrelated marriages. Among the genetic causes of PCG in different populations, the most common (from 30 to 86 % of cases) in Arab countries, Brazil and Turkey are mutations in the CYP1B1 gene. The spectrum of mutations varies depending on the region. In Australia and New Zealand, biallelic mutations were identified in the CYP1B1, CPAMD8 and COL18A1 genes, as well as heterozygous mutations in the TEK, FOXC1 and ANGPT1. Mutations in rare genes were also found in patients with PCG from Lebanon (ANGPT1 (p.K186N), Mauritania (NTF4 (c.601T>G, p.Cys201Gly) and WDR36 (c.2078A>G, p.Asn693Ser)). In the USA, the influence of the thrombospondin gene (THBS1) on the development of PCG is being studied. Based on the results of genetic and epidemiological studies, specific treatment, rehabilitation and preventive programs can be developed, which will determine the success of PCG therapy in children, preserving their visual functions.

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Background: Intraocular pressure (IOP) measurement should be accurate in a paediatric population with primary congenital glaucoma (PCG). Aim: This study aims to investigate the difference between the change in IOP measurements using rebound tonometry (RBT) and handheld applanation tonometry (AT) (Perkins applanation tonometer [PAT]) in patients with and without PCG. Setting: Johannesburg, South Africa. Methods: Measurements were taken under anaesthesia, using RBT and AT at 0 min, 5 min and 10 mins after induction and prior to intubation. Corneal pachymetry and corneal diameters were measured. Results: Sixty-five children were included, 19 with PCG and 46 without PCG. The mean age (standard deviation [s.d.]) was 3.2 (2.25) years and 4.8 (2.4) years, respectively. The overall mean difference in IOP between RBT and PAT across both PCG and non-PCG groups was found to be 4.92 mmHg (95% confidence interval [CI]: 2.80 – 7.03) p 0.001, with RBT having higher readings. This difference was greater in the PCG group, with the IOP difference of 9.05 mmHg (95% CI: 2.6 – 15.5) p = 0.004. Mean corneal pachymetry (s.d.) was 585.6 (81.48) µm in the PCG group and 518.31 (39.9) µm in the non-PCG group. Univariate analysis showed that IOP was significantly related to corneal pachymetry, with a 11 mmHg increase in IOP for every 100 μm change in corneal thickness for measurements done with RBT (p 0.001), compared to 4 mmHg using PAT (p = 0.008). Conclusion: Intraocular pressure measurements done with RBT in children with and without PCG were overestimated compared to PAT. Contribution: This difference was more pronounced in PCG patients. In addition, IOP was significantly related to corneal thickness.

PurposeTo report a case of gonioscopy-assisted transluminal trabeculotomy (GATT) in a patient with primary congenital glaucoma.ObservationsA three-year-old boy who presented with buphthalmos and elevated intraocular pressure. Despite the presence of iris and iris processes extending to Schwalbe's line, GATT was performed successfully.ConclusionsGATT may be successful with primary congenital glaucoma even when angle structures are not initially visible.

The prevalence of glaucoma in children is 1:10000-1:12000. In the structure of blindness in children, the proportion of the pathology under consideration ranges from 2 to 15 %.The goal of surgical treatment of glaucoma is to achieve the target elevated intraocular pressure (IOP) without the use of medications. Early complications include shallow anterior chamber syndrome, hyphema, ciliochoroidal detachment, excessive hypotension and hypertension. The probability of these complications is quite high: according to some data it can reach 50 %, which shows the relevance of this problem. Aims. To study the frequency and nature of early postoperative complications and to analyze the results of treatment in children with primary congenital glaucoma. Material and methods. The total number of children was 50 (91 eyes) who underwent anti-glaucomatous surgery and early postoperative complications were revealed. Results. Analysis of the structure of early postoperative complications after anti-glaucoma surgery showed that on the fi rst day, the total number of patients with complications was 61.54 %. On the third day, the total number of patients with complications decreased to 39.56 %. Of these patients, the largest number were patients with hypotension with CCO 32.97 %, hyphema was –19.78 % in the early postoperative period and ophthalmohypertension was –17.58 %.On the seventh day, the number of complications was 9.9 % of patients who were recommended to continue conservative treatment in inpatient conditions. Conclusion. In the early postoperative period after conservative treatment, the number of complications decreased to 90.1 %. None of these patients required repeat surgery. Patients were discharged home under the supervision of a local ophthalmologist.

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. Retrospective study. 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. 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. 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. 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. 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. The author(s) have no proprietary or commercial interest in any materials discussed in this article. [ABSTRACT FROM AUTHOR]

The prevalence of glaucoma in children is 1:10000-1:12000. In the structure of blindness in children, the proportion of the pathology under consideration ranges from 2 to 15 %. The goal of surgical treatment of glaucoma is to achieve the target elevated intraocular pressure (IOP) without the use of medications. Early complications include shallow anterior chamber syndrome, hyphema, ciliochoroidal detachment, excessive hypotension and hypertension. The probability of these complications is quite high: according to some data it can reach 50 %, which shows the relevance of this problem. Aims. To study the frequency and nature of early postoperative complications and to analyze the results of treatment in children with primary congenital glaucoma. Material and methods. The total number of children was 50 (91 eyes) who underwent anti-glaucomatous surgery and early postoperative complications were revealed. Results. Analysis of the structure of early postoperative complications after anti-glaucoma surgery showed that on the first day, the total number of patients with complications was 61.54 %. On the third day, the total number of patients with complications decreased to 39.56 %. Of these patients, the largest number were patients with hypotension with CCO 32.97 %, hyphema was -19.78 % in the early postoperative period and ophthalmohypertension was -17.58 %.On the seventh day, the number of complications was 9.9 % of patients who were recommended to continue conservative treatment in inpatient conditions. Conclusion. In the early postoperative period after conservative treatment, the number of complications decreased to 90.1 %. None of these patients required repeat surgery. Patients were discharged home under the supervision of a local ophthalmologist. [ABSTRACT FROM AUTHOR]

PURPOSE: To describe three anterior segment dysgenesis disorders with infantile corneal opacities, namely, congenital hereditary endothelial dystrophy (CHED), primary congenital glaucoma (PCG), and Peters anomaly (PA) in terms of clinical characteristics, histopathology, genetic association, and diagnostic imaging profiles using imaging modalities such as ultrasound biomicroscopy (UBM) and microscope-integrated intraoperative optical coherence tomography (i-OCT). MATERIALS AND METHODS: Seventy-four eyes with 22 eyes of CHED, 28 eyes of PA, and 24 eyes of PCG were clinically evaluated and underwent imaging using UBM and i-OCT. Corneal buttons of 16 operated patients underwent histopathological analysis, while genetic analysis was done in 23 patients using whole-exome sequencing. RESULTS: Corneal diameters (CD) and UBM parameters like anterior chamber depth (ACD), iris thickness (IT), and ciliary body (CB) thickness revealed a statistically significant difference between the three categories. In PA, 9 eyes had a third rare phenotype with only a posterior corneal defect with no iris adhesions. Genetic mutations were seen in all tested patients with CHED, in 83.3% of patients with PCG, and in 80% of patients with the third type of PA. i-OCT helped in the characterization of corneal opacity, identification of posterior corneal defects, iridocorneal adhesions, and contour of Descemet's membrane. CONCLUSION: Overlapping phenotypes of the above disorders cause a diagnostic dilemma and parameters like CDs, UBM ACD, IT, and CB thickness help differentiate between them. i-OCT can help in classifying the diseases in a high resolution, non-contact manner, and can better delineate corneal characteristics. The rare third type of PA phenotype may have a genetic association. [ABSTRACT FROM AUTHOR]

Primary congenital glaucoma (PCG) occurs worldwide and has a broad range of ocular manifestations. It poses a therapeutic challenge to the ophthalmologist. A proper diagnostic evaluation under anesthesia is advisable for all children who do not cooperate for an office examination. Medical therapy only serves as a supportive role, and surgical intervention remains the principal therapeutic modality. Angle incision surgery such as goniotomy or trabeculotomy ab externo is the preferred choice of surgery in the Caucasian population. Primary combined trabeculotomy-trabeculectomy with or without antifibrotic therapy is the preferred choice in certain regions such as India and the Middle East where the disease usually presents with severe forms of corneal edema along with megalocornea. In refractory cases, trabeculectomy with antifibrotic therapy or glaucoma drainage devices are available options in the armamentarium. Cycloablative procedures should be reserved for eyes with poor visual potential. Myopia is common among children with PCG, and appropriate optical refractive correction in the form of glasses or contact lenses should be provided. Amblyopia therapy should be instituted to ensure overall visual development in the early developmental years. Low-vision rehabilitation services should be provided to children with vision impairment. Long-term follow-up is mandatory and carers of children with PCG should be counseled and educated about this need. Regardless of the visual outcomes, clinicians should emphasize the need for education of these children during the clinic visit. The overall goal of the management should be to improve the overall quality of life of the children with PCG and their carers. [ABSTRACT FROM AUTHOR]

Pediatric glaucoma is a term that encompasses several forms of congenital glaucoma and types of secondary glaucoma that diff er in etiology, pathogenesis, and clinical presentation. Surgical treatment is the main method of IOP reduction in pediatric glaucoma. To date, no uniform method of surgical treatment of infantile glaucoma has been proposed, which makes the search for adequate methods of surgical intervention in this pathology most urgent. The aim of this work was to evaluate the effi cacy of surgical treatment of primary congenital infantile glaucoma in children. Material and methods. In the eye department of the clinic of the Tashkent Pediatric Medical Institute, the eff ectiveness of the method of surgical intervention in children from 3 to 10 years old with primary congenital infantile glaucoma was evaluated. Examined – 20 patients (40 eyes). Of these, 5 patients (10 eyes) entered the advanced stage, 10 patients (20 eyes) entered the far advanced stage, and 5 patients (10 eyes) entered the terminal stage, respectively. The patients underwent standard ophthalmological examination. The state of the optic nerve was investigated by optical coherence tomography Stratus OCT-3000 (Carl Zeiss Meditec), the visual fi elds – in 10 (20 eyes) patients aged over 8 years using standard automated and computer perimetry (SAP). Conclusions of the bioethical commission: This article evaluates the eff ectiveness of the method of surgical treatment of primary congenital infantile glaucoma in children. And gives specifi c results of diff erent operations at diff erent stages of primary congenital infantile glaucoma. Surgical treatment was chosen according to the degree of goniodysgenesis and the stage of the disease, which showed a satisfactory result in stabilizing the glaucoma process. Statistical analysis method using Microsoft Excel and SPSS programs was used for processing the results of the ophthalmological study. Diff erences between the mean values (M±σ) were considered reliable at P≤0.05. Results and Discussion. All patients underwent surgical treatment, depending on the severity of morphometric changes in the anterior chamber angle, and in the postoperative period with an interval of 6 months – a course of neuroprotective therapy. According to the examinations, children with primary infantile glaucoma in advanced stage underwent non-penetrating deep sclerectomy in 10 eyes, with extensive – in 20 eyes and with terminal – in 10 eyes – sinusotrabeculotomy ab externo, sinusotrabeculectomy. In 2 eyes in the terminal stage, fi ltering surgery was performed according to the proposed method. Thus, the above methods of surgery reduce the number of intra- and postoperative complications by 12.5%, avoid reoperations, reduce IOP in 12.3% of cases, increase visual acuity by 0.15 compared to the original. Conclusion. The above methods of surgical treatment were chosen according to the degree of goniodisgenesis and the stage of the disease, which showed a satisfactory result in stabilizing the glaucoma process

Purpose: In patients with primary congenital glaucoma (PCG), elevated intraocular pressure (IOP) causes abnormal eye growth. This study compared the outcomes of children with PCG who underwent ab externo trabeculotomy (TROC) at age ≤ 6 months (early TROC) and of those who underwent TROC at age > 6 months (delayed TROC). Methods: Intraocular pressure, horizontal corneal diameter (HCD), central corneal thickness (CCT) and axial length (AL) were compared before TROC and at 1‐, 3‐, 6‐ and 12‐month follow‐up visits between the groups of children who underwent TROC until or after 6 months of age. The ALs of these groups were also compared with the ALs of healthy age‐matched eyes examined under the same conditions. Results: Trabeculotomy was performed in 43 children: 18 (33 eyes) aged 6 months (group 1) and 25 (37 eyes) aged >6 months (group 2); the mean ages were 86.56 ± 53.64 and 504.48 ± 448.14 days, respectively. The mean pre‐ and 12‐month postoperative IOP values were 15.97 ± 4.78/16.62 ± 4.85 and 9.77 ± 2.88/10.93 ± 4.83 mmHg, respectively. Delayed TROC was associated with abnormal AL in 31 (88.6%) out of 37 eyes, while after early TROC, only 13 (41.9%) out of 33 eyes had abnormal AL (chi‐square, 8.00; p = 0.03). In multivariable analysis, each 1‐mmHg increase in preoperative IOP was associated with a 0.25‐mmHg increase at 12 months (p = 0.04). On average, the mean IOP of the delayed TROC group was higher than that of the early TROC group by 3.72 mmHg at postoperative month 12 (95% CI = 0.44–6.99; p = 0.02). Conclusion: Compared with delayed TROC, early TROC is associated with reduced IOP and substantially reduced incidence of abnormal AL at postoperative month 12. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Pediatric glaucoma is a term that encompasses several forms of congenital glaucoma and types of secondary glaucoma that differ in etiology, pathogenesis, and clinical presentation. Surgical treatment is the main method of IOP reduction in pediatric glaucoma. To date, no uniform method of surgical treatment of infantile glaucoma has been proposed, which makes the search for adequate methods of surgical intervention in this pathology most urgent. The aim of this work was to evaluate the efficacy of surgical treatment of primary congenital infantile glaucoma in children. Material and methods. In the eye department of the clinic of the Tashkent Pediatric Medical Institute, the effectiveness of the method of surgical intervention in children from 3 to 10 years old with primary congenital infantile glaucoma was evaluated. Examined - 20 patients (40 eyes). Of these, 5 patients (10 eyes) entered the advanced stage, 10 patients (20 eyes) entered the far advanced stage, and 5 patients (10 eyes) entered the terminal stage, respectively. The patients underwent standard ophthalmological examination. The state of the optic nerve was investigated by optical coherence tomography Stratus OCT-3000 (Carl Zeiss Meditec), the visual fields - in 10 (20 eyes) patients aged over 8 years using standard automated and computer perimetry (SAP). Conclusions of the bioethical commission: This article evaluates the effectiveness of the method of surgical treatment of primary congenital infantile glaucoma in children. And gives specific results of different operations at different stages of primary congenital infantile glaucoma. Surgical treatment was chosen according to the degree of goniodysgenesis and the stage of the disease, which showed a satisfactory result in stabilizing the glaucoma process. Statistical analysis method using Microsoft Excel and SPSS programs was used for processing the results of the ophthalmological study. Differences between the mean values (M±σ) were considered reliable at P≤0.05. Results and Discussion. All patients underwent surgical treatment, depending on the severity of morphometric changes in the anterior chamber angle, and in the postoperative period with an interval of 6 months - a course of neuroprotective therapy. According to the examinations, children with primary infantile glaucoma in advanced stage underwent non-penetrating deep sclerectomy in 10 eyes, with extensive - in 20 eyes and with terminal - in 10 eyes - sinusotrabeculotomy ab externo, sinusotrabeculectomy. In 2 eyes in the terminal stage, filtering surgery was performed according to the proposed method. Thus, the above methods of surgery reduce the number of intra- and postoperative complications by 12.5%, avoid reoperations, reduce IOP in 12.3% of cases, increase visual acuity by 0.15 compared to the original. Conclusion. The above methods of surgical treatment were chosen according to the degree of goniodisgenesis and the stage of the disease, which showed a satisfactory result in stabilizing the glaucoma process. [ABSTRACT FROM AUTHOR]

Primary congenital glaucoma (PCG) occurs worldwide and has a broad range of ocular manifestations. It poses a therapeutic challenge to the ophthalmologist. A proper diagnostic evaluation under anesthesia is advisable for all children who do not cooperate for an office examination. Medical therapy only serves as a supportive role, and surgical intervention remains the principal therapeutic modality. Angle incision surgery such as goniotomy or trabeculotomy ab externo is the preferred choice of surgery in the Caucasian population. Primary combined trabeculotomy-trabeculectomy with or without antifibrotic therapy is the preferred choice in certain regions such as India and the Middle East where the disease usually presents with severe forms of corneal edema along with megalocornea. In refractory cases, trabeculectomy with antifibrotic therapy or glaucoma drainage devices are available options in the armamentarium. Cycloablative procedures should be reserved for eyes with poor visual potential. Myopia is common among children with PCG, and appropriate optical refractive correction in the form of glasses or contact lenses should be provided. Amblyopia therapy should be instituted to ensure overall visual development in the early developmental years. Low-vision rehabilitation services should be provided to children with vision impairment. Long-term follow-up is mandatory and carers of children with PCG should be counseled and educated about this need. Regardless of the visual outcomes, clinicians should emphasize the need for education of these children during the clinic visit. The overall goal of the management should be to improve the overall quality of life of the children with PCG and their carers.

PURPOSE: To describe three anterior segment dysgenesis disorders with infantile corneal opacities, namely, congenital hereditary endothelial dystrophy (CHED), primary congenital glaucoma (PCG), and Peters anomaly (PA) in terms of clinical characteristics, histopathology, genetic association, and diagnostic imaging profiles using imaging modalities such as ultrasound biomicroscopy (UBM) and microscope-integrated intraoperative optical coherence tomography (i-OCT). MATERIALS AND METHODS: Seventy-four eyes with 22 eyes of CHED, 28 eyes of PA, and 24 eyes of PCG were clinically evaluated and underwent imaging using UBM and i-OCT. Corneal buttons of 16 operated patients underwent histopathological analysis, while genetic analysis was done in 23 patients using whole-exome sequencing. RESULTS: Corneal diameters (CD) and UBM parameters like anterior chamber depth (ACD), iris thickness (IT), and ciliary body (CB) thickness revealed a statistically significant difference between the three categories. In PA, 9 eyes had a third rare phenotype with only a posterior corneal defect with no iris adhesions. Genetic mutations were seen in all tested patients with CHED, in 83.3% of patients with PCG, and in 80% of patients with the third type of PA. i-OCT helped in the characterization of corneal opacity, identification of posterior corneal defects, iridocorneal adhesions, and contour of Descemet's membrane. CONCLUSION: Overlapping phenotypes of the above disorders cause a diagnostic dilemma and parameters like CDs, UBM ACD, IT, and CB thickness help differentiate between them. i-OCT can help in classifying the diseases in a high resolution, non-contact manner, and can better delineate corneal characteristics. The rare third type of PA phenotype may have a genetic association.

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.

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.

AIM: To evaluate the effectiveness of ab-externo microcatheter-assisted trabeculotomy(MAT)in moderate and advanced primary congenital glaucoma(PCG).METHODS: A retrospective study. A total of 20 children(22 eyes)with PCG who were admitted to Xi'an Fourth Hospital from August 2018 to November 2019 underwent ab-externo MAT. The follow-up is 12mo. The intraocular pressure(IOP), numbers of IOP-lowering drugs, corneal diameter, the cup/disk ratio(C/D ratio)of optic nerve and postoperative complications were observed.RESULTS: The mean preoperative IOP was 33.4±9.1mmHg, while it was 14.4±5.2mmHg at the last follow-up(P0.05). The preoperative C/D ratio of optic nerve was 0.85±0.17, and it was 0.84±0.16 at 12mo after surgery(P>0.05). There were no severe complications occurred in all patients.CONCLUSION: Ab-externo MAT is effective and safe in the treatment of moderate and advanced PCG.

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-1β, 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. [ABSTRACT FROM AUTHOR]

Background: Ologen is a collagen matrix designed to promote wound healing with minimal scarring. It has been used to create a prominent and healthy vascular bleb following trabeculectomy. The purpose of this study is to evaluate the adjunctive use of Ologen with mitomycin-C augmented trabeculectomy in eyes with primary congenital glaucoma. Methods: Ologen was placed in the subconjunctival space and under the scleral flap in 25 eyes of 21 patients with primary congenital glaucoma who underwent trabeculectomy with Mitomycin-C. Patients were examined preoperatively and in the 1st week, 1st, 3rd, 6th and 12th months after surgery. Examination included measurements of the intraocular pressure, corneal diameter, bleb evaluation, and fundus examination. Ultrasound biomicroscopy of the bleb was done at the last follow-up visit. Results: The mean age of the patients was 6.6 ± 2.95 months. Mean preoperative IOP was 22.56 ± 0.83 mmHg and the mean final postoperative IOP was 15.52 ± 3.54 mmHg. Complete success (IOP <21mmHg without medications) was observed in 22/25 eyes (88%) and qualified success of surgery (IOP < 21mmHg with the aid of medications) was observed in 3/25 eyes (12%). Total bleb score was favorable in 8/25 eyes at the end of follow up period. None of the patients experienced systemic or ocular complications that were specifically related to Ologen. Conclusions: Ologen implant is a safe and effective agent in conjunction with Mitomycin-C for improving the long term success rate, bleb survival and function after trabeculectomy surgery. [ABSTRACT FROM AUTHOR]

Primary congenital glaucoma (PCG) is characterized by developmental abnormalities of the anterior chamber angle. Although several genes have been associated with PCG, pathogenic mutations could only be detected in about 20% of Chinese patients. GLC3B (1p36.2–36.1) and GLC3C (14q24.3) loci were previously identified in PCG pedigrees via linkage analysis. However, no causative genes were reported in these loci. This study was designed to search for novel PCG-related genes in these genetic regions. DNA samples from 100 PCG patients and 200 normal controls were pooled and sequenced using a customized panel of 133 positional candidate genes located around GLC3B and GLC3C loci (±1Mb). PCG-related genes were prioritized by the distribution of variants between patients and controls. Confirmation of selected variants and co-segregation analysis were performed using Sanger sequencing. Patient and control group contained 116 and 147 rare variants respectively after screening. Three genes (ZC2HC1C, VPS13D, and PGF) were prioritized according to the distribution of variants between the two groups. Rare variants of PGF were only identified in PCG patients. To the best of our knowledge, this is the first study aiming at exploring novel PCG-related genes at GLC3B and GLC3C loci. Our preliminary results suggest that there are potential associations between ZC2HC1C, VPS13D, PGF, and PCG. However, larger cohort studies and functional assays are required to provide further evidence for the proposed genotype-phenotype association. [ABSTRACT FROM AUTHOR]

Background: Timely and proper intraocular pressure (IOP) management is vital to the prevention of visual impairment in children with primary congenital glaucoma (PCG). Although various surgical interventions have been proposed, no well-founded evidence exists on their comparative efficacies. We aimed to compare the efficacies of surgical interventions for PCG. Methods: We searched relevant sources up to 4 April 2022. Randomized controlled trials (RCTs) entailing surgical interventions for PCG in children were identified. A network meta-analysis (NMA) was performed, comparing 13 surgical interventions: Conventional partial trabeculotomy ([CPT] control), 240-degree trabeculotomy, Illuminated microcatheter-assisted circumferential trabeculotomy (IMCT), Viscocanalostomy, Visco-circumferential-suture-trabeculotomy, Goniotomy, Laser goniotomy, Kahook dual blade abinterno trabeculectomy, Trabeculectomy with mitomycin C, Trabeculectomy with modified scleral bed, Deep sclerectomy, Combined trabeculectomy-trabeculotomy with mitomycin C, and Baerveldt implant. The main outcomes were mean IOP reduction and surgical success rate at postoperative 6 months. The mean differences (MDs) or odds ratios (ORs) were analyzed by a randomeffects model, and the efficacies were ranked by P-score. We appraised the RCTs using the Cochrane risk-of-bias (ROB) tool (PROSPERO: CRD42022313954). Results: Sixteen RCTs were eligible for NMA, including 710 eyes of 485 participants and 13 surgical interventions, which formed a network of 14 nodes comprising both single interventions and intervention combinations. IMCT was superior to CPT in both IOP reduction [MD (95% CI): -3.10 (-5.50 to -0.69)] and surgical success rate [OR (95% CI): 4.38 (1.61-11.96)]. The MD and OR comparing the other surgical interventions and intervention combinations with CPT were not statistically significant. The P-scores ranked IMCT as the most efficacious surgical intervention in terms of success rate (P-score =0.777). Overall, the trials had a low-to-moderate ROB. Conclusion: This NMA indicated that IMCT is more effective than CPT andmight be themost efficacious of the 13 surgical interventions for management of PCG. [ABSTRACT FROM AUTHOR]

Objective: To identify the genetic variants in the CYP1B1 gene associated with Primary Congenital Glaucoma (PCG) and to predict its pathological effect. Method: A descriptive study was conducted in the time period of nine months (September 2021-May 2022) after the ethical approval was taken from The Children Hospital and Institute of Child Health (CH & ICH). Two milliliters of the blood sample from PCG-affected individuals were collected in EDTA vacutainers and genomic DNA was extracted by a phenol-chloroform method. The semi-quantification of extracted DNA was done by agarose gel electrophoresis. PCR amplification was performed by specific primers of CYP1B1 gene then termination sequencing (di-deoxy) was done to detect the genetic variants. Different bioinformatics tools such as BLAST, Ensembl, Clustal Omega, Polyphen and SIFT were used for the further analysis of mutation causing the disease. Results: A total of 85% of patients were bilaterally affected, while 15% were unilaterally affected. Mutation analysis identified five non related known variants. Two missense mutations (c.355 G/T p.A119S and c.685G/A p.E229K) occurred in 94% patients and intragenic SNP occurred in 29% patients along with the 1% somatic (c.693C/A p.F231L) and stop gained mutation (c.840C/A p.C280*). Conclusion: Genetic analysis in the current study showed that 85% of PCG affected patients were due to the CYP1B1 mutation, and disease heterogeneity might be reduced through genetic counseling. [ABSTRACT FROM AUTHOR]

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Autosomal recessive congenital hereditary endothelial dystrophy (CHED2) may be misdiagnosed as primary congenital glaucoma (PCG) due to similar clinical phenotypes during early infancy. In this study, we identified a family with CHED2, which was previously misdiagnosed as having PCG, and followed up for 9 years. Linkage analysis was first completed in eight PCG-affected families, followed by whole-exome sequencing (WES) in family PKGM3. The following in silico tools were used to predict the pathogenic effects of identified variants: I-Mutant 2.0, SIFT, Polyphen-2, PROVEAN, mutation taster and PhD-SNP. After detecting an SLC4A11 variant in one family, detailed ophthalmic examinations were performed again to confirm the diagnosis. Six out of eight families had CYP1B1 gene variants responsible for PCG. However, in family PKGM3, no variants in the known PCG genes were identified. WES identified a homozygous missense variant c.2024A>C, p.(Glu675Ala) in SLC4A11. Based on the WES findings, the affected individuals underwent detailed ophthalmic examinations and were re-diagnosed with CHED2 leading to secondary glaucoma. Our results expand the genetic spectrum of CHED2. This is the first report from Pakistan of a Glu675Ala variant with CHED2 leading to secondary glaucoma. The p.Glu675Ala variant is likely a founder mutation in the Pakistani population. Our findings suggest that genome-wide neonatal screening is worthwhile to avoid the misdiagnosis of phenotypically similar diseases such as CHED2 and PCG. [ABSTRACT FROM AUTHOR]

Clinical utility of genetic testing has rapidly increased in the past decade to identify the definitive diagnosis, etiology, and specific management. The majority of patients receiving testing are children. There are several barriers for genetic tests in adult patients; barriers may arise from either patients or clinicians. Our study aims to realize the detection rate and the benefits of genetic tests in adults. We conducted a prospective study of 10 adult patients who were referred to a genetic clinic. Exome sequencing (ES) was pursued in all cases, and chromosomal microarray (CMA) was performed for six cases. Our result is impressive; six cases (60%) received likely pathogenic and pathogenic variants. Four definitive diagnosis cases had known pathogenic variants in KCNJ2, TGFBR1, SCN1A, and FBN1, whereas another two cases revealed novel likely pathogenic and pathogenic variants in GNB1 and DNAH9. Our study demonstrates the success in genetic diagnosis in adult patients: four cases with definitive, two cases with possible, and one case with partial diagnosis. The advantage of diagnosis is beyond obtaining the diagnosis itself, but also relieving any doubt for the patient regarding any previous questionable diagnosis, guide for management, and recurrence risk in their children or family members. Therefore, this supports the value of genetic testing in adult patients. [ABSTRACT FROM AUTHOR]