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Purpose Primary congenital glaucoma (PCG) is a form of childhood glaucoma caused by maldevelopment of the anterior chamber. Disease severity differs greatly amongst patients. Ultrasound biomicroscopy (UBM) is a non-invasive technique that can visualize the anterior segment in infants in vivo. The purpose of this narrative review is to make an overview of the UBM data in PCG and study the applicability of UBM in characterizing the disease. Methods An online search was performed on PubMed in December 2020. After a critical appraisal of the included articles, study and patient characteristics were summarized. The UBM measurements of the anterior segment in PCG of the different studies were analysed. Results Six studies were included in this review. All were cross-sectional prospective studies. A total of 221 PCG eyes were examined. PCG eyes showed a larger trabecular iris angle, decreased iris thickness, narrower or absent Schlemm's canal and an increased zonular length compared to controls. Abnormal tissue membrane covering the trabecular meshwork and abnormal insertion of the iris and ciliary process were frequently found. The success rate of glaucoma surgery depended on the severity of anterior segment malformations found with UBM. Conclusion Malformations of the anterior segment in PCG can be demonstrated by UBM in vivo. This imaging can help to characterize disease severity and might support surgical treatment decisions.

This study demonstrates that a baseline corneal diameter12.25, initial age4 months at diagnosis, higher baseline IOP than 24 mm Hg, bilaterality, or inability to perform circumferential trabeculotomy, increases the risk of surgical failure of trabeculotomy in patients with primary congenital glaucoma (PCG).The aim of this study was to identify clinical predictive factors for surgical failure and to evaluate potential prognostic factors affecting surgical success in patients with PCG who underwent trabeculotomy.The medical charts of 123 eyes of 75 patients who underwent trabeculotomy surgery for the treatment of PCG were retrospectively reviewed. At baseline and each visit, intraocular pressure (IOP), corneal diameter, cup to disc ratio, axial length, number of medications, and need for further glaucoma surgery were noted. Surgical success was defined as an IOP ≤18 mm Hg and 20% IOP reduction from baseline with (qualified) or without (complete) medication and without any further IOP-lowering surgery.The mean age at surgery was 4.2±6.6 months and the mean follow-up time was 60.0±37.6 months. The receiver operating characteristic curve showed 4 following best cutoff values to predict surgical failure: the first for age at surgery was 4.5 months; the second baseline IOP was 24.0 mm Hg; the third for baseline cup to disc ratio was 0.4; and the fourth for baseline corneal diameter was 12.25 mm. Multivariate logistic regression analysis revealed that baseline IOP more than 24 mm Hg increased the risk of surgical failure by 2 times, baseline mean corneal diameter12.25 mm did by 4.2 times, younger age than 4 months did by 2.5 times, bilaterality did by 1.5 times.A higher baseline IOP, younger age, larger corneal diameter, and bilaterality were identified as risk factors for trabeculotomy failure in congenital glaucoma. The presence of one or more of these should be considered in the decision-making process when considering surgical options to manage glaucoma in these patients.

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.

The aim was to compare the long-term surgical outcomes of visco-circumferential-suture-trabeculotomy (VCST) and rigid probe viscotrabeculotomy (VT) in patients with primary congenital glaucoma (PCG).The study was conducted on 84 (47 right) eyes of 49 (32 males) children PCG to the pediatric ophthalmology unit of Mansoura Ophthalmic Center of Mansoura University, Egypt between 2015 and 2018. An initial office examination was followed by an examination under general anesthesia to establish the diagnosis of PCG. The children were then scheduled for surgery and the eyes randomly assigned to VCST or VT. Follow-up visits were scheduled at the first day, first week, first, and third months and then every 3 months for 1 year.The mean±SD age of the study children at presentation was 4.8±2.1 and 4.9±1.7 months in the VCST and the VT groups, respectively (P=0.827). The mean±SD preoperative intraocular pressure (IOP) was 29.13±3.3 and 29.89±3.2 mm Hg in the VCST and VT groups, respectively (P=0.292) and 11.9±1.3 and 13.8±1.2 mm Hg at the end of 36 moths of follow-up (P0.001). The IOP at all follow-up time points (except at the third month, P=0.924) was statistically significantly less in the VCST group than in the VT group (at week 1, month 1, 6, 9, 12, 18, 24, 30, and 36 the P0.001). The cumulative probability of success was 100%, 95%, 90%, and 90%, respectively in VSCT and 100%, 72.7%, 97.7%, 90.9%, and 84% in VT at 12, 24, 30, and 36 months.Both VCST and VT were effective and safe for lowering the IOP in PCG with VCST providing a marginal advantage over VT.

Objective To identify corneal structure differences on quantitative high-frequency ultrasound biomicroscopy (UBM) among subjects with congenital glaucoma compared with controls. Methods This prospective case-control study evaluated 180 UBM images from 44 eyes of 30 subjects (18 control and 12 glaucoma, mean age 5.2±8.0 years, range 0.2-25.8 years) enrolled in the Pediatric Anterior Segment Imaging and Innovation Study (PASIIS). ImageJ was used to quantify a comprehensive set of corneal structures according to 21 quantitative parameters. Statistical analysis compared corneal measurements in glaucoma subtypes and age-matched controls with significance testing and mixed effects models. Results Significant differences between congenital glaucoma cases and controls were identified in 16 of 21 measured parameters including angle-to-angle, central and peripheral corneal thicknesses, scleral integrated pixel density, anterior corneal radius of curvature, and posterior corneal radius of curvature. Eight parameters differed significantly between primary congenital glaucoma and glaucoma following congenital cataract surgery. Conclusion Multiple measurable corneal structural differences exist between congenital glaucoma and control eyes, and between primary and secondary congenital glaucoma, including but not limited to corneal width and thickness. The structural differences can be quantified from UBM image analysis. Further studies are needed to determine whether corneal features associated with glaucoma can be used to diagnose or monitor progression of congenital glaucoma.

Introduction: Glaucoma is a prevalent disease seen in the Ophthalmology department that includes a group of neurodegenerative eye pathologies associated with total loss of vision. It is known for its clinical diversity and secondary to this, it is assumed that multiple genes play a role in its pathogenesis. Among these, those that regulate the immune response which includes the HLA genes are of particular interest because they have been associated with a subgroup of glaucoma patients known as Primary Open Glaucoma. Methods: In this study, we studied 3 different groups of patients with glaucoma in whom HLA alleles were determined by sequence-specific primers (SSP) technique. Results: An association of HLA-DRB1*16 was found with the susceptibility to develop Primary Congenital Glaucoma. In addition, HLA-DRB1*14 was associated with glaucoma without angular dysgenesis, and HLA-DRB1*03 to glaucoma with iridocorneal dysgenesis. Conclusion: In conclusion, the data obtained allow us to suggest that glaucoma is a clinical and genetically heterogeneous disease in which one of the subgroups has an autoimmune mechanism in which the Mexican mestizo population shows genetic susceptibility and it differs from POAG with angular dysgenesis and POAG without dysgenesis.

Objective: To assess the influence of corneal biomechanics on intraocular pressure (IOP) measurements made with the Icare200 (IC200) rebound tonometer and the Perkins hand-held applanation tonometer in patients with primary congenital glaucoma (PCG). Materials and methods: 40 PCG patients and 40 healthy controls, age and gender-matched, were recruited. IOP was measured with the Ocular Response Analyzer (IOPc, IOPg), Icare200 and Perkins. The variables age, IOP, corneal hysteresis (CH), corneal resistance factor (CRF), central corneal thickness (CCT), best corrected visual acuity, spherical equivalent, medications and glaucoma surgeries were recorded for each subject. Uni and multivariate analysis were used to detect effects of variables on IOP measurements. Results: Mean CCT was 545.65±71.88 μm in PCG vs. 558.78±27.58 μm in controls (p=0.284). CH and CRF were significantly lower in PCG group than in control group: mean CH 8.11±1.69 mmHg vs. 11.15±1.63 mmHg (p

Purpose: To report the corneal tomographic characteristics of eyes that had surgery for controlled primary congenital glaucoma (PCG) and to compare it with an age-matched group of normal children. Methods: The study was conducted on 44 (24 right) eyes of 27 children (18 boys) who had surgery for PCG and 60 (31 right) eyes of 32 age-matched control children (9 boys). Children with PCG had a thorough ophthalmic examination and the demographic and medical and surgical history was retrieved from the patients' clinical chart records. After clinical examination, the study participants underwent Scheimpflug imaging using the Pentacam (Oculus Optikgeräte GmbH). Results: Both study and control children were approximately 9 years of age at the time of the study ( P = .39). The eyes with PCG had a spherical equivalent mean ± standard deviation of −4.70 ± 3.50 diopters (D). Eyes with PCG demonstrated a cylinder of −2.80 ± 2.10 D, flatter corneas than control eyes ( P = .0002 and .0012 for flat and steep keratometry, respectively), and statistically significantly higher astigmatism ( P = .011) and thinner corneas, both at pupil center ( P < .001) and thinnest location ( P < .001). There was a statistically significant negative correlation between the postoperative axial length (at the time of the scan) and each of the Scheimpflug parameters flat keratometry ( P = .002), steep keratometry ( P = .003), pachymetry at pupil center ( P = .01), and pachymetry at thinnest location ( P = .009). Conclusions: The eyes of patients with PCG have thinner, flatter, and more astigmatic corneas than the eyes of age-matched control children. [ J Pediatr Ophthalmol Strabismus . 2021;58(4):218–223.]

Purpose A central diagnostic tool in adult glaucoma is the peripapillary retinal nerve fibre layer (pRNFL) thickness. It can be assessed by scanning laser polarimetry (SLP) or optical coherence tomography (OCT). However, studies investigating the relevance of pRNFL measurements in children are rare. This study aims to compare the glaucoma diagnosing ability of SLP and OCT pRNFL thickness measurements in a paediatric population. Methods This retrospective study included 105 children (glaucoma: 22 (21.0%); healthy glaucoma suspects: 83 (79.0%)) aged 4–18 years, examined with SLP (GDxPro/ECC, Carl Zeiss Meditec) and spectral-domain OCT (SPECTRALIS®, Heidelberg Engineering). The thickness of pRNFL sectors was compared between diseased and healthy participants. Areas under the receiver-operating characteristic curves (AUC) and logistic regression results were used to compare the glaucoma discriminative capacity between SLP and OCT measurements. Results Using OCT, pRNFL thickness was decreased in the superior, nasal, and inferior quadrants of glaucoma patients compared to healthy controls (P P = 0.011). A correlation between glaucoma diagnosis and OCT-measured pRNFL thickness was found in all quadrants (P P = 0.037) and inferior quadrant (P = 0.0019). Finally, the AUCs of OCT measurements were markedly higher than those of SLP (e.g., inferior quadrant: OCT 0.83, SLP 0.68). Conclusion pRNFL thickness measurements using both OCT and SLP, correlate notably with the presence of glaucoma. In general, the diagnostic performance of pRNFL thickness measurements seems higher for OCT than for SLP. Thus, pRNFL thickness measurements could provide important information, complementing conventional clinical and functional parameters in the diagnostic process of paediatric glaucoma.

We evaluated the long-term visual outcomes in children with primary congenital glaucoma and determined the factors associated with the final visual outcomes. Medical records of children with primary congenital glaucoma between 2005 and 2016, seen at Seoul National University Children’s Hospital in South Korea, were reviewed. The minimum follow-up period after surgery for primary congenital glaucoma was 3 years. Visual acuity (VA) was categorized into good (≧20/70) and poor (

A 13-year-old female patient with refractory primary congenital glaucoma (PCG) in the right eye who had a history of multiple glaucoma operations underwent ab interno 180-degree trabeculectomy with the Kahook Dual Blade (KDB) targeting the nasal and inferior angles. On postoperative day 1, the intraocular pressure (IOP) of the right eye reduced from 43 to 15 mmHg while on medical therapy. The patient maintained this IOP level throughout the 6-month follow-up. Ab interno KDB trabeculectomy targeting both nasal and inferior angles may be an effective and safe procedure for the treatment of PCG even in eyes with a history of previously failed glaucoma procedures.

Purpose To assess the number of infants at risk of delayed primary congenital glaucoma (PCG) evaluation due to long travel times to specialists. Design Cross-sectional geospatial service coverage analysis. Methods All American Glaucoma Society (AGS) and American Association for Pediatric Ophthalmology and Strabismus (AAPOS) provider locations were geocoded using each organization’s member directory. Sixty-minute drive time regions to providers were generated using ArcGIS Pro (Esri, Redlands, CA). The geographic intersection of AGS and AAPOS service areas was computed because patients typically require visits to both types of specialists. American Community Survey data was then overlaid to estimate the number of infants within and beyond the AGS/AAPOS service areas. Results One thousand twenty-nine AGS and 1,040 AAPOS provider locations were geocoded. The analysis yielded 944,047 infants age 0-1 year (23.6%) who live beyond the AGS/AAPOS service areas. Therefore, approximately 14 to 94 new PCG cases/year may be at risk of delayed diagnosis due to living in a potential service desert. Compared to children living within the AGS/AAPOS service areas, children under age 6 years in these potential service deserts were more likely to live in households earning below the US federal poverty level, lack health insurance, and live in a single parent home. These communities are disproportionately likely to experience other rural health disparities, and are more prevalent across the Great Plains. Conclusion Service coverage analysis is a useful tool for identifying underserved regions for PCG referrals and evaluation. These data may assist in targeting screening programs in low access areas for pediatric glaucoma care.

Objective To compare intraocular pressure (IOP) measurements obtained using the Icare 200™ (IC200) rebound tonometer and the hand-held version of the Goldmann Applanation Tonometer (Perkins™ tonometer, GAT) in patients with primary congenital glaucoma (PCG) and in healthy subjects. Material and methods A total of 42 eyes of healthy subjects (G1) and 40 patients with PCG (G2) were analysed. The following clinical data were collected: gender, age, Cup/Disc ratio, central corneal thickness (CCT). IOP was determined in the examination room using the IC200 and GAT tonometers, in the same order. Agreement between both tonometers was determined using the intraclass correlation coefficient (ICC) and Bland-Altman plot. A linear regression analysis was used to establish the IOP was affected by the studied variables. Results Mean IOP between both tonometers (IC200 minus GAT) was: G1 = 15.91 (2.57) mmHg vs. 15.06 (2.12) mmHg (mean difference, MD = 0.84 (0.50) mmHg; P Excellent agreement was found between IC200 and GAT in both groups (ICC = G1: 0.875 (95% CI; 0.768−0.933; P Conclusions There was excellent agreement between the IC200 and GAT tonometers, both in healthy subjects and PCG, with a trend to overestimate IOP when measured with IC200. There was no influence by CCT on IOP measurements in patients with PGC.

Purpose: To report a case of neurotrophic keratopathy (NK) in a patient affected by primary congenital glaucoma (PCG) who undergone glaucoma drainage implant surgery. NK was successfully treated with human recombinant Nerve Growth Factor (Cenegermin) eye drops. Case report description: A 46-years-old patient affected by primary congenital glaucoma underwent Ahmed glaucoma valve implantation in the right eye, after several unsuccessful surgeries to control intraocular pressure (IOP) since the age of three. Surgical intervention was performed without complications, and IOP was well-controlled post-operatively. However, 1 month after surgery, he developed NK with stromal ulceration, initially treated with a topical combination of preservative-free artificial tears and antibiotic ointment. As NK did not resolve, a new treatment with Cenegermin 20 µg/ml eye drops, 6 times daily, was started. Outcome: NK completely resolved after 8 weeks of Cenegermin treatment, with complete restoration of corneal integrity and improvement of corneal sensitivity and transparency. Visual acuity in the operated eye reverted to the pre-operative value. Conclusion: Cenegermin was extremely effective in restoring corneal integrity in this PCG patient with NK.

Mohamed F Farid, Mohamed Anany, Mohamed A Awwad Ophthalmology Department, Benha University, Benha, EgyptCorrespondence: Mohamed A AwwadOphthalmology Department, Benha University, PO Box: 13511, 1 Fareed Nada Street, Benha, EgyptEmail mohdzahir82.ma@gmail.comPurpose: To present outcomes of surgical management of primary congenital glaucoma (PCG) in children less than one year of age in a population based at the Nile Delta.Methods: A retrospective review of medical records of patients with PCG less than one year of age at presentation who underwent surgical intervention in a tertiary care facility based at the Nile Delta. All patients underwent measurement of intraocular pressure (IOP), horizontal corneal diameter (HCD), cup-to-disc ratio (CDR) before and after surgery and a minimum of 6 months follow up was required. Surgical success was defined as IOP less than 22mmHg without medications and without progression of main disease parameters.Results: The review revealed 44 eyes of 26 consecutive patients who underwent surgical treatment for PCG. Average age at surgery was 5.2 months and mean follow up was 18.5 months. Preoperative IOP was 28.5± 4 mmHg, HCD was 13.7± 0.7mm, and CDR (when visible) was 0.65± 0.18. A total of 69 surgical procedures were performed with an average of 1.56 procedures per eye. Postoperative IOP was 13.3± 4.8 mmHg, HCD was 12.8± 0.9mm, and CDR was 0.3± 0.2 (P< 0.0001). Surgical success was achieved in 32 eyes (72.7%) while sight-threatening postoperative complications were reported in 3 eyes.Conclusion: Surgical management of PCG younger than one year of age achieved good success rate in the region of the Nile Delta with low rate of visually significant postoperative complications. However, larger studies with longer follow up are needed to fully reveal the overall characteristics of PCG in the region.Keywords: primary congenital glaucoma, intraocular pressure, trabeculotomy, trabeculectomy, Ahmed glaucoma valve, the Nile Delta

Mohamed F Farid, Mohamed Anany, Mohamed A Awwad Ophthalmology Department, Benha University, Benha, EgyptCorrespondence: Mohamed A AwwadOphthalmology Department, Benha University, PO Box: 13511, 1 Fareed Nada Street, Benha, EgyptEmail mohdzahir82.ma@gmail.comPurpose: To present outcomes of surgical management of primary congenital glaucoma (PCG) in children less than one year of age in a population based at the Nile Delta.Methods: A retrospective review of medical records of patients with PCG less than one year of age at presentation who underwent surgical intervention in a tertiary care facility based at the Nile Delta. All patients underwent measurement of intraocular pressure (IOP), horizontal corneal diameter (HCD), cup-to-disc ratio (CDR) before and after surgery and a minimum of 6 months follow up was required. Surgical success was defined as IOP less than 22mmHg without medications and without progression of main disease parameters.Results: The review revealed 44 eyes of 26 consecutive patients who underwent surgical treatment for PCG. Average age at surgery was 5.2 months and mean follow up was 18.5 months. Preoperative IOP was 28.5± 4 mmHg, HCD was 13.7± 0.7mm, and CDR (when visible) was 0.65± 0.18. A total of 69 surgical procedures were performed with an average of 1.56 procedures per eye. Postoperative IOP was 13.3± 4.8 mmHg, HCD was 12.8± 0.9mm, and CDR was 0.3± 0.2 (P< 0.0001). Surgical success was achieved in 32 eyes (72.7%) while sight-threatening postoperative complications were reported in 3 eyes.Conclusion: Surgical management of PCG younger than one year of age achieved good success rate in the region of the Nile Delta with low rate of visually significant postoperative complications. However, larger studies with longer follow up are needed to fully reveal the overall characteristics of PCG in the region.Keywords: primary congenital glaucoma, intraocular pressure, trabeculotomy, trabeculectomy, Ahmed glaucoma valve, the Nile Delta

Primary congenital glaucoma (PCG) is a rare glaucoma type that develops in early infantile period and contributes to an elevated pressure on ocular cavity. Variants in gene are the most encountered in PCG cases. The prevalence of PCG is relatively high among Arabs, however its genetic epidemiology remains understudied. This study aims to systematically identify all reported PCG disease-causing variants in the Arab population and investigate their potential genotype-phenotype correlations. We searched four different databases (PubMed, ScienceDirect, Google Scholar, and Scopus) from the time of inception until July 2020. Broad search terms were used to capture all possible information about the genetic epidemiology of PCG among Arabs. We identified a total of 77 disease-causing variants in 361 patients and 88 families; of these, 33 were unique to Arabs. Sixty-nine variants were identified in the gene, five variants were in the gene and single variants were reported in , and genes. The most common reported variant was the c.182 G > A in the gene. All identified variants were from ten Arab Countries (Saudi Arabia, Kuwait, Oman, Egypt, Morocco, Lebanon, Tunisia, Iraq, Algeria, and Mauritania). We identified 44 shared variants with other ethnicities demonstrated a distinctive genotype-phenotype correlation. Consanguinity was observed in the majority of Arab PCG patients, ranging from 45% to 100%. PCG causing variants were identified in 10 Arab countries, which were mostly detected in the gene. Arab patients with PCG seem to have distinctive genotype-phenotype correlations.

Hazem Helmy Glaucoma Unit, Glaucoma and Optic Nerve Disease Department, Research Institute of Ophthalmology; RIO, Giza, EgyptCorrespondence: Hazem Helmy 48, Palm City Katameya, EgyptTel +20 201288882616Email hazem.helmy@yahoo.comIntroduction: Primary congenital glaucoma (PCG) is a challenging disease that needs to be surgically managed with more innovative methods. Conventional incisional surgery, such as goniotomy and trabeculotomy, has a primary high success rate, but does not seem to be a very effective treatment in advanced stages.Design: A prospective clinical case study.Purpose: To qualify the outcome, in terms of success rate, of goniotomy combined with trabeculotomy as a surgical option to treat eyes affected by PCG with a corneal diameter larger than 14 mm.Patients and Methods: This study included 50 eyes of 50 patients diagnosed with PCG with corneal diameter larger than 14 mm who underwent ab interno goniotomy combined with ab externo trabeculotomy. Intraocular pressure (IOP) was measured preoperatively and 24 months postoperatively. A statistical analysis was performed to detect correlations between the success rate and corneal diameter, preoperative IOP, age of onset, axial length, and consanguinity. The main outcome was reduction in IOP; secondary outcomes were factors affecting the success rate, complications, and the need for additional surgical intervention to control IOP.Results: The mean age of the patients was 18.86± 9.94 months. Males made up 52% of cases and females 48% of cases. Positive consanguinity was present in 38% of cases. Axial length ranged between 20 and 22 mm, with a mean of 20.98± 0.8 mm. Mean preoperative IOP was 29.56± 3.36 mmHg, which decreased postoperatively to 12.6± 2.5, 14.1± 3.2, 16.8± 5.5, 14.4± 2.3, 14.3± 1.6, 14.3± 1.6, 14.3± 1.6, 14.3± 1.7, and 14.3± 1.7 mmHg at 1, 3, 6, 9, 12, 15, 18, 21, and 24 months respectively (p˂0.001). Use of medical treatment was decreased from 2.7± 0.4 preoperatively to 1.4± 0.7 postoperatively (p˂0.001). Hyphema was the only complication that appeared, occurring in 47% of cases. The success rate was 94%. Complete success (IOP < 21 mmHg without treatment) was achieved in 70% of cases, 24% were considered a qualified success (IOP < 21 mmHg with treatment), while failure was documented in 6% of cases (IOP > 21 mmHg with treatment). The success rate was significantly related to preoperative IOP, corneal diameter, axial length, consanguinity, and age of onset (p˂0.001). All cases were followed for 24 months.Conclusion: Ab interno goniotomy combined with ab externo trabeculotomy improves the success rate of buphthalmos surgery. A significant correlation was detected between success rate and preoperative IOP, corneal diameter, axial length, consanguinity, and age of onset.Keywords: primary congenital glaucoma, intraocular pressure, corneal diameter, trabeculotomy, goniotomy

Purpose: The aim of this study was to evaluate long-term intraocular pressures that provide stabilization/reversal of glaucomatous neuropathy after surgery in primary congenital glaucoma (PCG). Methods: Prospective evaluation of consecutive PCG patients who underwent trabeculectomy-trabeculotomy and followed up for ≥2 years. Records of regularly performed examination under anesthesia were maintained to ascertain intraocular pressure, (IOP), fundus, refraction and corneal diameter. Outcomes – Primary: cup: disc ratio and intraocular pressure, Secondary: corneal changes and refractive error Results: A total of 174 eyes of 108 children with PCG had a preoperative IOP of 22.44 ± 9.5 mm Hg. Postoperative review IOP was 11.8 ± 4.5 mm Hg, cup-disc-ratio was 0.52 ± 0.23 and corneal diameter was 12.75 ± 0.9 mm. Primary outcomes: Linear regression analysis showed a significant positive correlation of review IOP with cup disc ratio, P = 0.004. 67.9%, of eyes at a review IOP range of 6-12 mm Hg showed reversal, 14.1%, were stable, at 6-15 mm Hg, while 3.84% showed an increase in cup: disc ratio 16-22 mm Hg. Patients operated before 6 months of age had a significantly smaller final cup-disc ratio, P = 0.0013. Patients with a final cup: disc ratio of >0.9 were significantly older at surgery, P < 0.001. Secondary outcomes: There was a positive correlation of final myopia with review IOP on linear regression analysis, P = 0.012. The final spherical error in eyes having cup disc ratio of ≤ 0.5 was –0.96 ± 4.5 diopters, as against -3.45 ± 7.7 diopters in eyes having cup-disc ratio of 0.6-0.8 and -3.8 ± 6.9 diopters in eyes with cup disc ratio of ≥0.9, P = 0.015. There was no significant change in corneal diameter. Conclusion: Patients operated after 6 months of age had a larger final cup: disc ratio, while postoperative review intraocular pressures over 2 years of at least ≤15 mm Hg in primary congenital glaucoma eyes, commonly lead to reversal/stability of the neuropathy, and a lower incidence and degree of myopia.

Background: Primary prevention of primary congenital glaucoma (PCG) includes improving families of children with PGC. We evaluated the level of knowledge and attitudes of parents of children on PCG in Saudi Arabia. Methodology: This was a personal interview-based survey of parents of children with PCG at a tertiary eye hospital in Saudi Arabia. The study was conducted in 2018. A close-ended questionnaire in Arabic was used. Demographic data were collected on the children and parents. Clinical data on PCG were collected from electronic case records. Five questions each on knowledge and attitudes toward genetic counseling were queried. A Likert-type scale was used to collect the responses. Rasch analysis was carried out for knowledge and attitudes. The score was correlated with demographics and clinical determinants. p < 0.05 was considered statistically significant. Results: The study sample comprised 60 participants. The median Rasch score for knowledge on genetic counseling for PCG was -4.57 [interquartile range (IQR) -7.28; -1.0]. The median Rasch score for attitudes toward genetic counseling for PCG was -8.9 (IQR -11.6: -5.9). Parents with more than one family member with PCG had a significantly higher knowledge than those with one family member with PCG (p = 0.007). Knowledge of etiology and genetic counseling was significantly better if the child had residual vision amenable to low vision care (p < 0.001). The Rasch scores for knowledge and attitude were positively correlated (p < 0.001). Conclusion: Knowledge of the cause of PCG and genetic counseling was high among parents. The positive attitude toward genetic counseling could be useful for the primary prevention of CG in Saudi Arabia.

Purpose The aim of this study was to describe the effectiveness of goniotomy for childhood glaucoma in Indian eyes. Methods Consecutive patients with pediatric glaucoma who underwent goniotomy between July 2017 and June 2020, in a single center in Northwest India were prospectively analyzed. Goniotomy was done as a primary procedure or a re-do surgery of the untreated angle in failed filtering surgery. Success was defined as intraocular pressure (IOP) ≦18 mm Hg with or without 2 topical medications. Results A total of 172 eyes of 126 children underwent goniotomy during this period (37.9% of all pediatric glaucoma surgeries). Goniotomy comprised 132 of 211 (62.5%) primary pediatric glaucoma surgeries and 40 of 243 (16.5%) re-do surgeries. 145, 112, and 54 eyes had a six months, 1-year and 2-year follow-up, respectively. At 1 year, success rates in Primary Congenital Glaucoma (PCG) were 79.7% for primary surgery and 68.4% for re-do surgery. For non-PCG eyes, the success rate was 62% at 1 year. Among PCG subgroups, infantile and newborn glaucoma had 87.5% and 57.1% success rates, respectively. On logistic regression analysis, lower baseline IOP and lesser axial length at presentation were significantly predictive of successful outcomes (P = 0.03 and P = 0.02, respectively). At 1 year, in the primary surgery group, 50% had good vision (better than logMAR 0.5), 28.9% had moderate (better than LOGMAR 1.0) and 20% had severe visual impairment. There were no significant intraoperative or post-operative complications. Conclusion Goniotomy appears to be an effective surgery for childhood glaucoma in Indian eyes. Being minimally invasive, it obviates the need for conjunctival and scleral dissection and antifibrotic agents.

To evaluate the surgical success after trabeculotomy for primary congenital glaucoma (PCG) in Denmark in the last 40 years.Retrospective review of medical files on children who all underwent trabeculotomy as the first surgical intervention between January 1rst, 1977 and December 31, 2016. Information on diagnosis and surgical procedures were extracted. Primary outcome was surgical success was defined as intraocular pressure (IOP) 21 mmHg without medications one year after surgery. Secondary outcome was the number of reoperations needed.Out of 118 children with PCG, 96 children (144 eyes) had an ab externo trabeculotomy as primary IOP lowering procedure opening Schlemm's channel 4 clock hours into the anterior chamber. Complete surgical success at one year was achieved in 73% (106 of 144 eyes). On the long term, IOP could be controlled by one surgical procedure in 2/3 of children, eight eyes required5 surgical procedures to control IOP. In 12.1% of children the second glaucoma procedure was performed5 years after the initial trabeculotomy. There was a tendency towards greater risk of needing a second procedure in patients 3 months of age at primary trabeculotomy (hazard ratio, HR, 2.01, 95% CI 0.96-4.22) and in boys (HR 2.02, 95% CI 0.97-4.18) and a lower risk of requiring a third surgery if the second surgery was trabeculectomy with MMC.Dedicated follow-up of patients with PCG is essential as the disease may continue to progress even after years of quiescence and some children need multiple surgeries to control IOP. Additional glaucoma procedures are required in 1/3 of children and boys and younger patients seem to be at greater risk.

PRECIS In this study, huge time delay was observed between first primary congenital glaucoma (PCG) symptom recognition by parents to ophthalmological diagnosis and this delay was unchanged over time. Bilateral affliction and mean presenting intraocular pressure (IOP) remained unaltered. PURPOSE To compare the trends in presentation of patients with PCG over 3 different time periods at 10-year intervals (1998, 2008, and 2018) managed by a single surgeon at one of the largest tertiary eye care centers in South India. METHODS Retrospective analysis of 313 eyes of 172 patients diagnosed to have PCG and treated at the L V Prasad Eye Institute (LVPEI) between January and December of the 3 specified years. Data collected included age at symptom recognition and at presentation, sex, affected eye, signs and symptoms, time between onset of symptoms and diagnosis (diagnostic delay), corneal clarity, and IOP. RESULTS Of the 172 patients, 48 (27.9%), 76 (44.2%), and 48 (27.9%) belonged to 1998, 2008, and 2018, respectively. Bilateral affliction (79% to 84%) was common and there was no sex predilection. The median age at recognition of first symptoms by caregivers/parents was 1 day (interquartile range, 1 to 30), and at diagnosis was 120 days (interquartile range, 30 to 378). Overall, presentation to LVPEI was delayed by >3 months in 80 (46.5%) children, and there was no statistically significant difference in the duration of delay over time (P=0.13). There was no significant difference in the mean presenting IOP over time (P>0.05). CONCLUSIONS We provide unique single center-based information of trends in the presentation of patients with PCG over 3 decades. Diagnostic delay was common, and a large number of characteristics of patients with PCG in South India have remained unchanged, particularly, age at onset and at diagnosis and laterality.

This prospective study aimed to compare the surgical outcomes of ab externo 240-degree trabeculotomy and trabeculotomy–trabeculectomy in managing primary congenital glaucoma (PCG). The study included 30 eyes of 30 patients aged less than 3 years who were diagnosed with PCG and was conducted in Menofia University Hospital between November 2018 and January 2020. The studied eyes were divided into two equal groups. Ab externo 240-degree trabeculotomy and combined trabeculotomy with trabeculectomy with MMC were performed for groups I and II, respectively. Post-operative measurements included intraocular pressure (IOP), optic disc changes, alteration in corneal clarity and transverse corneal diameter, as they are needed for antiglaucoma therapy. Post-operative complications were followed up for 1-year. There was significant reduction in IOP in both groups during the follow-up period. The reduction was higher in group I, where mean preoperative IOP was 28.20 ± 1.74 mmHg. The IOP in the group II was 28.07 ± 3.51 mmHg. The mean IOP decreased to 13.93 ± 1.8 mmHg and 14.60 ± 1.24 mmHg in groups I and II, respectively, after 1 year (P

Purpose To assess the long-term results of viscotrabeculotomy in infants with primary congenital glaucoma and to compare its outcome with conventional trabeculotomy. Patients and methods A prospective randomized comparative study included infants with primary congenital glaucoma younger than 2 years. Patients were divided into two groups: viscotrabeculotomy group and conventional trabeculotomy group. Preoperative and postoperative intraocular pressures, corneal diameter, intraoperative and postoperative complications, and success rates were compared between two groups. All the patients were followed up for 5 years. Results The study included 154 eyes of 92 infants distributed randomly among the two groups; 78 and 76 eyes in viscotrabeculotomy and conventional trabeculotomy groups, respectively. In both groups, there was a statistically significant intraocular pressure reduction at all time points of the follow-up periods compared to the preoperative values (p < 0.0001). At 5 years, viscotrabeculotomy group showed significant reduction of the mean postoperative intraocular pressure (49.47%) than conventional trabeculotomy group (48.64%) (p < 0.0001). Intraocular pressure was statistically lower in viscotrabeculotomy starting from 12th month and till the end of the follow-up. At 5 years, the total success rate of viscotrabeculotomy group was 89.74% compared to 85.53% in conventional trabeculotomy group without significant difference (p = 0.487). The postoperative mean values of the cup/disk ratio in viscotrabeculotomy group showed statistically lower values compared to conventional trabeculotomy group (p = 0.019). Postoperative hyphema was statistically higher in conventional trabeculotomy group (p Conclusion Viscotrabeculotomy and conventional trabeculotomy proved to be effective in cases of primary congenital glaucoma. Viscotrabeculotomy appeared to have prolonged stability in controlling the intraocular pressure with higher success rates and lower complications.

Primary congenital glaucoma (PCG) is one of the primary causes of blindness in children and is characterized by congenital trabecular meshwork and anterior chamber angle dysplasia. While being a rare condition, PCG severely impairs the quality of life of affected patients. However, the pathogenesis of PCG remains to be fully elucidated. It has previously been indicated that genetic factors serve a critical role in the pathogenesis of PCG, although patients with PCG exhibit significant genetic heterogeneity. Mutations in the cytochrome P450 family 1 subfamily B member 1 gene have been implicated in PCG and further genes that have been reported to be involved in PCG are myocilin, forkhead box C1, collagen type I α1 chain and latent transforming growth factor β binding protein 2. The present review aims to provide an up to date understanding of the genes associated with PCG and the use of molecular technologies in the identification of such genes and mutations. This may pave the way for the development of preventative methods, early diagnosis and improved therapeutic strategies in PCG.

Abdelhamid Elhofi, Hany Ahmed Helaly Ophthalmology Department, Faculty of Medicine, Alexandria University, Alexandria, EgyptCorrespondence: Hany Ahmed Helaly 30 Roshdy Street, Roshdy, Alexandria, EgyptTel +20 1225466733Email hany209209@yahoo.comPurpose: To evaluate the safety and efficacy of non-penetrating deep sclerectomy with a collagen implant versus trabeculectomy in primary congenital glaucoma.Subjects and Methods: This was a retrospective interventional comparative non-randomized clinical study that included 80 eyes of 80 children presenting with primary congenital glaucoma under the age of 3 years. Forty eyes have undergone non-penetrating deep sclerectomy (NPDS) and the other 40 eyes have undergone penetrating trabeculectomy. The main outcome measure was the reduction in intraocular pressure (IOP). Secondary outcomes included percentage of patients with complete and qualified success, need for topical antiglaucoma medications, rate of complications, and need for further interventions. Complete success of the surgical outcome was considered an IOP ≤ 16 mmHg with no antiglaucoma medications. Qualified success was considered an IOP ≤ 16 mmHg using antiglaucoma medications.Results: The mean preoperative IOP was 27.4 ± 6.9 and 28.5 ± 6.6 mmHg in NPDS and trabeculectomy groups, respectively (p = 0.175). At the end of the follow-up period, the mean IOP was 11.2 ± 4.5 and 11.1 ± 3.4 mmHg with a mean reduction of 16.2 and 17.4 mmHg in NPDS and trabeculectomy groups, respectively. At the end of the follow-up period, ie at 36 months postoperative, the complete success rate was 60% (24 eyes) versus 57.5% (23 eyes), the qualified success rate was 25% (10 eyes) versus 25% (10 eyes), the overall success rate was 85% (34 eyes) versus 82.5% (33 eyes), and the rate of failure was 15% (6 eyes) versus 17.5% (7 eyes) in NPDS and trabeculectomy groups, respectively (p = 0.952). Eight cases (20%) of the trabeculectomy group had shallow anterior chamber. None of the NPDS group cases suffered from shallow anterior chamber.Conclusion: Non-penetrating deep sclerectomy appears to be an efficient and safe surgical alternative to penetrating trabeculectomy in treatment of primary congenital glaucoma. Non-penetrating deep sclerectomy has fewer postoperative complications in comparison to penetrating trabeculectomy with a comparative postoperative reduction in the intraocular pressure and overall success rates.Trial Registration: The trial was registered on 11/01/2020 with number PACTR202002874953456 (https://pactr.samrc.ac.za).Keywords: deep sclerectomy, primary congenital glaucoma, non-penetrating, childhood glaucoma, non-penetrating deep sclerectomy, trabeculectomy

Purpose To evaluate the safety and efficacy of non-penetrating deep sclerectomy with a collagen implant versus trabeculectomy in primary congenital glaucoma. Subjects and methods This was a retrospective interventional comparative non-randomized clinical study that included 80 eyes of 80 children presenting with primary congenital glaucoma under the age of 3 years. Forty eyes have undergone non-penetrating deep sclerectomy (NPDS) and the other 40 eyes have undergone penetrating trabeculectomy. The main outcome measure was the reduction in intraocular pressure (IOP). Secondary outcomes included percentage of patients with complete and qualified success, need for topical antiglaucoma medications, rate of complications, and need for further interventions. Complete success of the surgical outcome was considered an IOP ≤16 mmHg with no antiglaucoma medications. Qualified success was considered an IOP ≤16 mmHg using antiglaucoma medications. Results The mean preoperative IOP was 27.4 ± 6.9 and 28.5 ± 6.6 mmHg in NPDS and trabeculectomy groups, respectively (p = 0.175). At the end of the follow -up period, the mean IOP was 11.2 ± 4.5 and 11.1 ± 3.4 mmHg with a mean reduction of 16.2 and 17.4 mmHg in NPDS and trabeculectomy groups, respectively. At the end of the follow -up period, ie at 36 months postoperative, the complete success rate was 60% (24 eyes) versus 57.5% (23 eyes), the qualified success rate was 25% (10 eyes) versus 25% (10 eyes), the overall success rate was 85% (34 eyes) versus 82.5% (33 eyes), and the rate of failure was 15% (6 eyes) versus 17.5% (7 eyes) in NPDS and trabeculectomy groups, respectively (p = 0.952). Eight cases (20%) of the trabeculectomy group had shallow anterior chamber. None of the NPDS group cases suffered from shallow anterior chamber. Conclusion Non-penetrating deep sclerectomy appears to be an efficient and safe surgical alternative to penetrating trabeculectomy in treatment of primary congenital glaucoma. Non-penetrating deep sclerectomy has fewer postoperative complications in comparison to penetrating trabeculectomy with a comparative postoperative reduction in the intraocular pressure and overall success rates. Trial registration The trial was registered on 11/01/2020 with number PACTR202002874953456 (https://pactr.samrc.ac.za).

Precis Central corneal thickness (CCT) may increase over time in children affected by primary congenital glaucoma and treated with latanoprost for at least 30 months. Purpose The purpose of this study was to investigate CCT modification over time in a population of primary pediatric glaucoma (PPG) patients prescribed a monotherapy of latanoprost. Materials and methods The present paper reports the results of a post hoc analysis on patients enrolled in the Glaucoma Italian Pediatric Study (GIPSy). Children affected by PPG, with a postsurgical intraocular pressure between 22 and 26 mm Hg and treated with latanoprost monotherapy for at least 30 months were eligible for the analysis. CCT variation from baseline was investigated over the follow-up using univariable and multivariable longitudinal linear mixed models. The impact of age, sex, and intraocular pressure on CCT variation were evaluated taking into account the interaction of each variable with time. Results Twenty-seven eyes (20 patients) were included in the analysis. Mean duration of latanoprost treatment was 36.6 months (SD 2.5) and mean CCT at baseline was 551 μm (SD 37.7). A significant increase of CCT over time was revealed by multivariable analysis, taking into account the impact of age at baseline and its interaction with time (P=0.03). The interaction between age and time was significant (P=0.04), indicating that older age at baseline was associated with lower increase of CCT over time. No variation of CCT was found in univariable analysis (P=0.28). Conclusion In this population of PPG patients treated with latanoprost for at least 30 months, CCT significantly increased over time, when the impact of age and its interaction with time were considered.

Purpose: To report a case of gonioscopy-assisted transluminal trabeculotomy (GATT) in a patient with primary congenital glaucoma. Observations: A 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. Conclusions: GATT may be successful with primary congenital glaucoma even when angle structures are not initially visible.

Purpose: The purpose of this study was to report the long-term efficacy and clinical outcomes of microcatheter-assisted circumferential trabeculotomy (MCT) in children with primary congenital glaucoma (PCG). Methods: This is a single-center retrospective study including consecutive children with PCG who underwent MCT with > two years follow up. The primary outcome was surgical success, defined as intraocular pressure (IOP) ≤ 21 mmHg with (qualified) or without (complete) medications, measured at six months, one year, and then annually. Secondary outcomes were visual acuity (VA), refraction, axial length (AXL), complications, reinterventions, and number of medications. Results: Twelve eyes of ten patients were included. In eight children only one eye was affected. The mean ± standard deviation (SD) age at surgery was 6.3 ± 4.1 months. The mean postoperative follow-up was 66 ± 35 months. The mean IOP was 34.3 ± 9.6 mmHg preoperatively and 14.6 ± 2.3 mmHg postoperatively at the last visit (p < 0.001). Complete success was achieved at all time points in 10 out of 12 eyes, while 2 eyes had a qualified success. At three years of age, the mean VA of the operated eyes was 0.25 ± 0.12 logMAR, the mean spherical equivalent was −0.78 ± 1.43 diopters, and the mean AXL was 23.78 mm. Transient hyphema was the only complication observed. None of the children required additional glaucoma surgery. Conclusions: Circumferential trabeculotomy for PCG effectively lowers the IOP at more than two years after surgery. Following this procedure, the prognosis for the visual function is good, and the refractive error is low. Postoperative complications were not significant.

Background: Primary congenital glaucoma (PCG) is the most common childhood glaucoma. It is caused by a defective development of the trabecular meshwork and the anterior chamber angle, which is believed to be inherited as an autosomal recessive disorder. The disease is characterised by high intraocular pressure (IOP), buphthalmos with corneal enlargement, and tears in Descemet’s membrane. Although rare, it is a significant cause of blindness in children worldwide. Case presentation: A 12-year-old Romani girl came to the department of ophthalmology complaining of epiphora and right eye enlargement. In her medical history, recurrent eye redness, lacrimation, and photosensitivity were noted, with symptoms lasting 7-9 years, which had been treated as conjunctivitis. Upon examination, enlargement of the right eye (axial length 25.63 mm) and divergent strabismus could be seen. Visual acuity in the enlarged eye was reduced to hand movement and slit lamp showed corneal clouding and Haab’s striae. Applanation tonometry measured IOP of 34 mmHg in the right eye. Fundus examination of the affected eye revealed a pale optic disc with a cup-to-disc ratio of 0.9 and visual field test showed residual temporal island of vision. The left eye had a complete normal finding. Based on clinical examination and imaging, PCG was diagnosed and trabeculectomy with mitomycin-C was performed on the right eye. Reassessment after four weeks showed a formed filtration bubble with IOP of 10 mmHg in the operated eye, but severe amblyopia persisted. After 12 months, visual acuity, IOP values, and visual field remained unchanged. Conclusion: Atrophy of the optic nerve caused by congenital glaucoma leads to a severe visual impairment in early years of life. This case illustrates the importance of early recognition and appropriate management of PCG to improve prognosis and to avoid irreversible damage to the visual function.

Purposes: Recent studies have suggested that loss-of-function mutations of the tunica intima endothelial receptor tyrosine kinase (TEK) are responsible for approximately 5% of primary congenital glaucoma (PCG) cases in diverse populations. However, the causative role of TEK mutations has not been studied in Chinese PCG patients. Here, we report the mutation spectrum of TEK after screening a large cohort of PCG patients of Chinese Han origin and analyze the identified variants in functional assays.Methods: TEK-targeted next-generation sequencing (NGS) was performed in 200 PCG patients. Candidate variants were prioritized by mutation type and allele frequency in public datasets. Plasmids containing wild type and identified variants of TEK were constructed and used to assess protein expression, solubility, receptor auto-phosphorylation, and response to ligand stimulation in cell-based assays.Results: Ten missense and one nonsense heterozygous variants were detected by NGS in 11 families. The clinical features of TEK variants carriers were comparable to that of TEK-mutated patients identified in other populations and CYP1B1-mutated individuals from in-house database. Functional analysis confirmed four variants involving evolutionarily conserved residues to be loss-of-function, while one variant (p.R1003H) located in tyrosine kinase domain seemed to be an activating mutation. However, our results did not support the pathogenicity of the other five variants (p.H52R, p.M131I, p.M228V, p.H494Y, and p.L888P).Conclusion: We provide evidence for TEK variants to be causative in Chinese PCG patients for the first time. Attention needs to be paid to TEK mutations in future genetic testing.

Childhood glaucoma is a heterogeneous disease and can be associated with various genetic alterations. The aim of this study was to report first results of the phenotype–genotype relationship in a German childhood glaucoma cohort. Forty-nine eyes of 29 children diagnosed with childhood glaucoma were prospectively included in the registry. Besides medical history, non-genetic risk factor anamnesis and examination results, genetic examination report was obtained (23 cases). DNA from peripheral blood or buccal swab was used for molecular genetic analysis using a specific glaucoma gene panel. Primary endpoint was the distribution of causative genetic mutations and associated disorders. Median age was 1.8 (IQR 0.6; 3.8) years, 64% participants were female. Secondary childhood glaucoma (55%) was more common than primary childhood glaucoma (41%). In 14%, parental consanguinity was indicated. A mutation was found in all these cases, which makes consanguinity an important risk factor for genetic causes in childhood glaucoma. CYP1B1 (30%) and TEK (10%) mutations were found in primary childhood glaucoma patients. In secondary childhood glaucoma cases, alterations in CYP1B1 (25%), SOX11 (13%), FOXC1 (13%), GJA8 (13%) and LTBP2 (13%) were detected. Congenital cataract was associated with variants in FYCO1 and CRYBB3 (25% each), and one case of primary megalocornea with a CHRDL1 aberration. Novel variants of causative genetic mutations were found. Distribution of childhood glaucoma types and causative genes was comparable to previous investigated cohorts. This is the first prospective study using standardized forms to determine phenotypes and non-genetic factors in childhood glaucoma with the aim to evaluate their association with genotypes in childhood glaucoma.

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.

BackgroundPrimary congenital glaucoma (PCG) is a challenging condition to diagnose, treat and effectively monitor. Serial assessment of intraocular pressure (IOP), optic disc cupping, refraction, and axial length (AxL) after surgery are useful to assess disease control. This study aimed to evaluate AxL changes in relation to IOP changes following glaucoma surgery in children with PCG.MethodsWe retrospectively studied AxL changes in children with PCG undergoing surgery. Eyes of children aged ≤ 4 years that did not have prior ocular surgery and that underwent at least one glaucoma surgery during the course of follow-up between June 2014 and July 2018, were included. The effect of change in IOP on change in AxL was estimated using linear mixed effects models.ResultsA total of 105 eyes (of 72 children) with PCG underwent glaucoma surgery representing 26.4% (105/397) eyes. The mean ± SD age of children at baseline was 3.53 ± 4.04 months. At baseline, the mean IOP and AxL were 26.63 ± 9.57 mmHg and 21.67 ± 1.82 mm, respectively. During the course of follow-up post-surgery, the IOP decreased by a mean of 7.25 ± 12.08 mmHg while the AxL increased by a mean of 0.70 ± 1.40 mm. A multivariable mixed effects linear regression revealed that change in AxL was significantly associated with change in IOP (p=0.030) and time since first surgery (pConclusionIn children with PCG who undergo glaucoma surgery, change in IOP significantly influences change in AxL. For AxL to regress, a substantial reduction in IOP is needed post-surgery.

Purpose: To estimate carrier frequencies of CYP1B1 mutations p.Gly61Glu and p.Arg368His, respectively, in Talesh and the east of Guilan province in Iran with a maximum error of 2%. Previously, it was shown that these CYP1B1 mutations may be relatively prevalent in these regions. Methods: Population-based screenings were performed. DNA was extracted from saliva samples of 1036 individuals from Talesh and 3029 individuals from the east of Guilan. P.Gly61Glu and p.Arg368His screenings were performed, respectively, by RFLP and ARMS-based PCR protocols. For confirmation, the DNA of individuals with mutations was sequenced using the Sanger protocol. Results: Nine individuals from Talesh (0.86%; 95%CI: 0.45–1.64%) carried the p.Gly61Glu mutation, and 73 from the east of Guilan (2.41%; 95%CI: 1.91–3.04%) carried p.Arg368His. There was no significant difference in frequencies between urban and rural regions of the various cities, nor among four cities within the east of Guilan. Conclusion: The frequencies of p.Gly61Glu carriers in Talesh and of p.Arg368His carriers in the east of Guilan were within the 95% confidence interval of a previous study based on screenings of fewer individuals. The reliability of the recent estimates is higher, as the confidence interval for p.Gly61Glu decreased from 6.5% to 1.19% and the interval for p.Arg368His decreased from 4% to 1.13%. Based on the new findings, the maximum expected frequency of p.Gly61Glu carriers in Talesh is 1.64%, and of p.Arg368His carriers in the east of Guilan is 3%. The need for performing premarital screenings in the respective cities can be evaluated.

Background Primary congenital glaucoma (PCG) is a leading cause of childhood blindness in Egypt. The discovery of the underlying genetic causes has led to far greater understanding of disease mechanisms. Cytochrome P450, family 1, subfamily B, polypeptide 1(CYP1B1) gene mutations usually inherited in an autosomal recessive manner are one of the major etiologies behind PCG. Gene screening aids early diagnosis of PCG which is a key factor in managing and preventing blindness from the disease. Aim This study aims to screen for CYP1B1gene mutations in PCG patients and study its possible impact on surgical outcome of PCG. Methods Twenty-four PCG patients enrolled in this study underwent trabeculotomy, and were followed up at a 3 month interval for a year. Patients’ demographic details were recorded, and their genomic DNA was screened for CYP1B1 mutations. Genotypic impact on surgical outcome was compared between the group of patients who harbored mutations and the group unsolved with mutations. Results Six different disease causing CYP1B1 mutations were identified in 13 (54.17 %) of affected patients who exhibited more surgical failure at the last follow up visit. Conclusion This study further endorses CYP1B1 mutations as a possible etiological and prognostic factor for PCG.

Introduction: Primary congenital glaucoma is a rare vision-threatening condition of children. Primary congenital glaucoma though a rare disease it is the most common cause of childhood glaucoma with potency to cause blindness. This study was undertaken to find the prevalence of the children with primary congenital glaucoma under 3 years of age in a tertiary care hospital. Methods: This was a descriptive cross-sectional study conducted at a tertiary eye center in Nepal in children (≤ 3 years) presented in the outpatient department of a tertiary eye hospital between June 2017 and June 2020. The study was approved by the hospital review committee and adhered to the declaration of Helsinki. A convenient sampling method was used. Point estimate at 95% Confidence Interval was calculated with frequency distribution. Data analysis was conducted using Statistical Package for the Social Sciences. Results: Out of total children under 3 years who presented to the outpatient department, 46 (0.31%) at 95% Confidence Interval (0.30-0.32) had primary congenital glaucoma. Among them, 30 children (65.2%) had bilateral involvement. Mean intraocular pressure was 42.40±8.15mm Hg. The mean age of initial presentation, horizontal corneal diameter, and axial length were 12.07±8.9 months, 12.95±1mm, and 23.89±1.7mm respectively. Consanguinity was observed in 12 (26%) children. Conclusions: From the study, we conclude that there was a low prevalence of primary congenital glaucoma among children under 3 years of age who presented to the outpatient department in a tertiary care hospital.

An 18-year-old man with primary congenital glaucoma and buphthalmos in both eyes presented with unilateral, sudden-onset, painless vision loss. He had previously undergone multiple sectoral ab externo rigid-probe trabeculotomy in both eyes and subsequently Baervelt glaucoma implantion in both eyes, with adequate intraocular pressure control. Examination revealed subfoveal choroidal neovascular membrane (CNVM) and associated hemorrhages in the right eye. He was treated with 3 consecutive, monthly, intravitreal injections of bevacizumab and recovered baseline vision.

Purpose To report outcomes and complications of trabeculotomy ab interno using the Trab360 device (Trab360; Sight Sciences, Menlo Park, California, USA) in eyes with childhood glaucomas. Design Multicenter retrospective interventional case series. Methods Eyes with childhood glaucomas that underwent Trab360 with at least 3 months follow-up were evaluated. Postoperative intraocular pressure (IOP) less than or equal to 24 mm Hg with or without medications and no additional surgery defined success. Results Forty-six eyes of 41 patients were included. Median age at surgery was 12 months (range 1-325 months, mean 71 months); 54% prior to 20 months. A total of 48% were right eyes; 48% were male. Mean treatment was 290°. Median follow-up was 14.5 months (range 6-34 months, mean 16.2 months). Median preoperative IOP was 30 mm Hg (range 18-49 mm Hg, mean 30.9 mm Hg); median postoperative IOP was 18 mm Hg (range 5-40 mm Hg, mean 20.3 mm Hg]. Median number of preoperative glaucoma medications was 2.5 (range 0-5, mean 2.6); median number postoperatively was 1 (range 0-4, mean 1.6). Success was achieved in 67.4% (95% CI: 51.9%-80.0%) of eyes. Among 40 eyes for which Trab360 was the first glaucoma surgery, success rate was 70% (95% CI 53.3%-82.9%). Success was achieved in 81% (95% CI 57.4%-93.7%) of primary congenital glaucoma (PCG) eyes. Among 18 PCG eyes for which Trab360 was the first glaucoma surgery, success rate was 83.3% (95% CI 57.7%-95.6%). Two eyes (4.3%) suffered cyclodialysis. There were no other significant complications. Conclusions Trab360 success resembles literature on other angle surgeries for childhood glaucomas. Good surgical technique and caution in high-risk angles is imperative to avoid cyclodialysis. Our study is limited by the imperfections inherent in any retrospective analysis. Single-incision ab interno trabeculotomy with the Trab360 device is effective and safe for treating childhood glaucomas, especially PCG.

Aim To describe the clinical and epidemiological characteristics of children with pediatric glaucoma (PG) treated in an ophthalmologic national reference center. Materials and methods A retrospective study of patients diagnosed with PG in a national ophthalmologic reference center was made, between 2005 and 2015. Clinical findings, type of treatment, and the follow-up were evaluated. Results A total of 89 patients (145 eyes) were included. The median age of diagnosis was 2.0 years. The most frequent type of glaucoma was primary PG with 67.4% of affected patients, primary congenital glaucoma (PCG) being more frequent (69 eyes) than juvenile open-angle glaucoma (JOAG 36 eyes). Secondary PG accounted for 32.6% of the cases (40 eyes). At least one surgical procedure was needed in 56.6% of all studied eyes, and 10.7% of eyes had more than two surgical procedures. Even more, eyes with PCG had surgery in 88.4% of cases. On the contrary, eyes with JOAG did not require surgery. In the last assessment, the distribution of cases according visual acuity did not show differences. However, it is important to note that patients with secondary PG maintained a good vision only in 17.9% of cases. Conclusion Pediatric glaucoma is a heterogeneous group of diseases, and due to its low incidence, descriptive reports of large cohorts are not available. This study has a well-detailed report of PG characteristics in a national reference center. The frequency of JOAG in the present study was significantly higher than that reported in other studies. Also, clinical characteristics of all glaucoma described have some differences from data published. Clinical significance There are few studies that describe characteristics of PG. This study is an important tool to analyze the characteristics of PG in an effort to better know the disease. How to cite this article Saavedra C, Rios HA, Belalcazar S, et al. Characteristics of Pediatric Glaucoma in a Latin American Reference Center. J Curr Glaucoma Pract 2020;14(1):10-15.

Purpose Primary congenital glaucoma (PCG) is a severe type of glaucoma that occurs early in life. PCG is usually inherited in an autosomal recessive pattern. Cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) gene is reported to be PCG-related gene. It codes for the CYP1B1 enzyme which is considered as phase I xenobiotic-metabolizing enzyme and its function is related to the eye oxidative homeostasis and correspondingly to the normal development of the eye. This is the first genetic study in Iraq that investigates the CYP1B1 polymorphisms behind the PCG disease. Methods Genomic DNA was extracted from the whole blood of 100 unrelated Iraqi PCG patients and 100 healthy children, all of them were aged between 1 month and 3 years. All the coding sequence of CYP1B1 gene was amplified using polymerase chain reaction; restriction fragment length polymorphism was used to follow G61E and E229K mutations. Direct sequencing was performed to screen for other mutations. Results CYP1B1 mutations were identified in 78 (78%) of the patients. We detected a total of eight mutations: Four missense mutations (c.182G>A, c.685G>A, g.6813G>A, and g.6705G>A), one silence mutation (D449D) and three insertions (g.10068ins10069, g.10138ins10139, and g.10191ins10192). Five mutations (g.6813G>A, g.6705G>A, g.10068ins10069, g.10138ins10139, and g.10191ins10192) are novel. G61E is the only mutation that was detected in patients merely. Conclusions CYP1B1 mutation (G61E) is considered as PCG-related allele in the Iraqi population.

Aims: Primary congenital glaucoma (PCG) is a leading cause of childhood blindness. The cytochrome P450 family 1, subfamily B, polypeptide 1 (CYP1B1) is the most mutated gene that is associated with PCG. Very few studies have examined the promoter region and exon1 of the CYP1B1 gene. This work was planned to contribute to the description of the possible causative mutations of CYP1B1 gene that are related to PCG affected Egyptian patients. Patients and Methods: Patients diagnosed as glaucomatous based on their symptoms and detailed ophthalmological examinations at the time of presentation underwent an intraocular pressure lowering surgical procedure. Investigations were further proceeded on the molecular level. Sequencing-based mutation screen for the promoter region, exon1 and the coding region of exon3 of CYP1B1 gene have been performed in two related consanguineous PCG affected families and four other sporadic Egyptian patients using the polymerase chain reaction (PCR) assay; where PCR products were sequenced, and further analyzed. Results: Sequencing analysis revealed three novel mutations in PCG affected patients one in the promoter region (g.G2872A) and two in exon1 (g.C3268T and g.C3332T). Two additional mutations in exon3 (p.L432V and p.N453S) reported for the first time in PCG affected Egyptian patients. Clinical and genetic data of the two consanguineous families revealed that although the four parents have the same variations as their sons, they are ophthalmologically free. Conclusion: Regular ophthalmic examinations of siblings and parents of these affected patients should take place for early detection of any form of glaucoma to allow prompt diagnosis and early treatment when needed. Clinical examination and molecular genetic data could contribute to early diagnosis and prevention of the visual impairment caused by PCG. This study provides groundwork for expanded genetic investigations in Egypt paving the way for genetic counseling to help affected families make informed medical and personal decisions.

Primary congenital glaucoma (PCG) is a rare disease affecting children early in life. PCG was considered untreatable with inevitable blindness. However, recent advances in biochemical and genetic studies, the introduction of new diagnostic tools, intraocular pressure (IOP) lowering medications and improvement of surgical techniques have led to a better understanding of this devastating disease and preserving the vision of affected children. This paper presents an updated and broad overview of PCG in terms of the epidemiology and genetic aspects, particularly in Saudi Arabia, the clinical presentation and diagnostic approach to PCG with major emphasis on the treatment options. Keywords: Congenital, Glaucoma, Cornea, Genetics, Goniotomy, Trabeculotomy, Trabeculectomy

The presence of retinal capillary hemangioblastoma and cerebellar hemangioblastoma in the context of Von Hippel-Lindau syndrome (VHL) is not characteristically associated with other ophthalmologic conditions. Here, we report the case of a 22-yearold female with a history of bilateral primary congenital glaucoma who presented with a right juxtapapillary retinal capillary hemangioblastoma and an old hemiretinal vein occlusion in which the retinal capillary hemangioblastoma was likely the contributing factor. Her systemic work up was positive for VHL syndrome and revealed the presence of a fatal large brainstem hemangioblastoma. To our knowledge, the association of VHL and congenital glaucoma and/or retinal venous occlusion has not been reported. Keywords: Capillary hemangioblastoma, Von Hippel Lindau syndrome, Hemiretinal vein occlusion, Primary congenital glaucoma

AIM: To identify the novel mutation alleles in the CYP1B1 gene of primary congenital glaucoma (PCG) patients at Shandong Province of China, and investigate their correlation with glaucomatous features. METHODS: The DNA from the peripheral blood of 13 congenital glaucoma patients and 50 ethnically matched healthy controls from the affiliated hospital of Qingdao University were extracted. The coding region of the CYP1B1 gene was amplified by PCR and direct DNA sequencing was performed. Disease causing-variants were analyzed by comparing the sequences and the structures of wild type and mutant CYP1B1 proteins by PyMOL software. RESULTS: Two missense mutations, including A330F caused by c.988G>T&c.989C>T, and R390H caused by c.1169G>A, were identified in one of the 13 PCG patients analyzed in our study. A330F mutation was observed to be novel in the Chinese Han population, which dramatically altered the protein structure of CYP1B1 gene, including the changes in the ligand-binding pocket. Furthermore, R390H mutation caused the changes in heme-protein binding site of this gene. In addition, the clinical phenotype displayed by PCG patient with these mutations was more pronounced than other PCG patients without these mutations. Multiple surgeries and combined drug treatment were not effective in reducing the elevated intraocular pressure in this patient. CONCLUSION: A novel A330F mutation is identified in the CYP1B1 gene of Chinese PCG patient. Moreover, in combination with other mutation R390H, this PCG patient shows significant difference in the CYP1B1 protein structure, which may specifically contribute to severe glaucomatous phenotype.

Purpose To investigate the potential of handheld optical coherence tomography (HH-OCT) in assessing the anterior segment of the eye in patients with primary congenital glaucoma. Design A prospective, case-controlled observational study. Participants Twenty-two patients with primary congenital glaucoma (PCG, 9 females and 13 males; mean age 4.36 ± 3.4 years) and age-, gender- and ethnicity-matched healthy participants. Methods Anterior OCT was performed in all participants using a high-resolution HH SD-OCT device (Envisu 2300, Leica Microsystems, Germany) without anaesthesia or sedation. Results Anterior HH-OCT in PCG visualised Haab’s striae in 14.3%, uneven internal cornea in 9.5% and epithelial thickening in 11.9% of patients with central corneal thickening (CCT, p

Large cupping of the optic disk in a baby or a child can be indicative of primary congenital glaucoma. Primary congenital glaucoma is often refractory to treatment, and lifelong management and follow-up are necessary; therefore, diagnosis requires careful consideration. In this study, we describe the case of twins in whom primary congenital glaucoma was initially suspected due to large cupping of the optic disks. Twin babies (a boy and a girl weighing 455 g and 592 g respectively), born prematurely (at 28 gestational weeks), were referred to our hospital eight months after birth because large cupping of the optic disks was detected during follow-up for retinopathy of prematurity. According to color fundus photographs, the cup/disk ratios in both eyes of both babies ranged from 0.75 to 0.86. However, the axial length ranged from 18.57 to 19.91 mm, the anterior chamber depth ranged from 2.68 to 2.93 mm, and the horizontal diameters of the corneas, which were clear, ranged from 10 to 10.5 mm. The intraocular pressures (IOPs), as measured by a rebound tonometer, were 15.3-19.7 mmHg. Glaucoma was strongly suspected due to the large cupping of the optics disks; however, other ocular biometric tests demonstrated that the eyes were normal. After eight months of follow-up without any medication or intervention, the IOPs stabilized between 6-22.1 mmHg, the refractive errors were between -2.5 and 0 diopters, and we found no apparent enlargement of the optic disks. In addition, we investigated both parents’ optic disks to evaluate the genetic factors and found that they had relatively large C/D ratios (0.68-0.79). These premature twins exhibited glaucoma-like optic disks with large cupping, but no solid glaucomatous changes were observed with ocular biometry and IOP testing. We concluded, therefore, that the early birth and lower birth weights may have been associated with the large cupping of the patients’ optic disks. To differentiate between normal physiological cupping and primary congenital glaucoma, ocular morphological examination of the eye, IOP measurements, and investigation of the parents’ optic disks were useful.