BACKGROUND: Primary congenital glaucoma (PCG) affects approximately 1 in 10,000 live born infants in the United States (U.S.). PCG has a autosomal recessive inheritance pattern, and variable expressivity and reduced penetrance have been reported. Likely causal variants in the most commonly mutated gene, CYP1B1, are less prevalent in the U.S., suggesting that alternative genes may contribute to the condition. This study utilized exome sequencing to investigate the genetic architecture of PCG in the U.S. and to identify novel genes and variants.
METHODS: We studied 37 family trios where infants had PCG and were part of the National Birth Defects Prevention Study (births 1997-2011), a U.S. multicenter study of birth defects. Samples underwent exome sequencing and sequence reads were aligned to the human reference sample (NCBI build 37/hg19). Variant filtration was conducted under de novo and Mendelian inheritance models using GEMINI.
RESULTS: Among candidate variants, CYP1B1 was most represented (five trios, 13.5%). Twelve probands (32%) had potentially pathogenic variants in other genes not previously linked to PCG but important in eye development and/or to underlie Mendelian conditions with potential phenotypic overlap (e.g., CRYBB2, RXRA, GLI2).
CONCLUSIONS: Variation in the genes identified in this population-based study may help to further explain the genetics of PCG.

OBJECTIVE: The aim of this study concerns the evaluation of peripapillary vessel indices in childhood glaucoma (CG) and healthy subjects.
METHODS: In this prospective, unicenter, observational cross-sectional study, patients with CG and age and sex-matched healthy subjects were included. We compared retinal nerve fiber layer (RNFL) measurements in optical coherence tomography (OCT), peripapillary vessel density (PVD), and the flux index (FI) of the superficial vascular plexus from OCT angiography (OCT-A) between CG patients and control groups.
RESULTS: We included 39 patients (68 eyes) with CG and 50 (95 eyes) healthy subjects. The peripapillary RNFL thickness, vessel density, and flux index were significantly lower in the CG group than in the control group. The mean PVD of CG patients was 0.52 ± 0.043%, compared with 0.55 ± 0.014%, p < 0.0001 in healthy subjects. The mean FI was 0.32 ± 0.054 versus 0.37 ± 0.028, p < 0.0001, in CG patients and healthy subjects, respectively. PVD and FI in the superior, inferior, and temporal sectors were significantly lower in CG. The peripapillary RNFL thickness showed a higher area under the ROC curve (AUROC) for discriminating healthy and CG eyes and was significantly different than the PVD (0.797, 95%CI 0.726-0.869; p < 0.0001 vs. 0.664, 95%CI 0.574-0.752; p 0.00037), p 0.012.
CONCLUSIONS: PVD and FI show lower values in CG and correlate with RNFL thickness measurement but have lower diagnostic ability than RNFL thickness measurement. Our results reveal possible differences in the pathogenesis of microvascular compromise in childhood glaucoma patients.

BACKGROUND: Vision-related disorders are common in children. Therefore, eye examination and thorough visual assessment by first-contact physicians are crucial in children. This study aimed to evaluate the knowledge of and attitude toward children\'s eye disorders among pediatricians and family physicians in the Ministry of National Guard Health Affairs-Western Region (MNGHA-WR) of Saudi Arabia.
METHODS: In this observational, cross-sectional study, we used a self-administered, web-based questionnaire. The sample size was calculated to be 148 pediatricians and family physicians (of 240 in total) currently working at MNGHA-WR. The first section of the questionnaire dwelled on demographics, while the second section addressed the physician\'s knowledge of and attitude toward commonly encountered ophthalmological pathologies in children. Data collected were entered into Microsoft Excel and then transferred to IBM SPSS version 22 for statistical analysis.
RESULTS: A total of 148 responses (92 family physicians and 56 pediatricians) were received. Most of the participants were residents or staff physicians (n = 105, 70.9%). The mean knowledge score of the respondents was 54.67% ± 14.5%. Participants\' knowledge was further subclassified using Bloom\'s original cutoff points into high (n = 4, 2.7%), moderate (n = 53, 35.8%), and low (n = 91, 61.5%) levels of knowledge. Regarding practices, 120 (81%) participants performed ophthalmic examinations; however, only 39 (26.4%) conducted routine examinations as part of every child\'s visit. Fundus examinations were performed by 25 (16.9%) physicians. A significant deficiency in knowledge was noted in those with < 1 year of work experience (P = 0.014). Although statistically not significant (P = 0.052), family physicians possessed better knowledge than pediatricians regarding children\'s eye disorders. On the contrary, more pediatricians performed eye examinations than family physicians (P = 0.015). The male sex was also associated with higher rates of eye examination (P = 0.033).
CONCLUSIONS: An unsatisfactory level of knowledge of eye disease among participating doctors was reported. The proportion was significantly higher among residents and staff physicians. Therefore, awareness efforts should be incorporated in both family medicine and pediatrics residency programs to limit the number of cases of ocular disorders going undiagnosed in children.

OBJECTIVE: The aim of this prospective pilot study is to establish an initial database to register patients diagnosed with different types of childhood glaucoma and the set-up of a national registry for childhood glaucoma (ReCG) in Germany. 28 children with different types of diagnosed childhood glaucoma, who were admitted and treated at the Childhood Glaucoma Center of the University Medical Center Mainz, Germany were included. Main outcome measures were the type of childhood glaucoma, mean intraocular pressure (IOP) and genetic data of the patients.
RESULTS: The documents and questionnaires for each individual included: informed consent form of the parents, medical history form of the child, patient\'s gestational history questionnaire and general anesthesia examination form. Primary congenital and secondary childhood glaucoma were revealed in 11 (39%) and 17 (61%) patients, respectively. The mean IOP measured with Perkins tonometer in all patients under general anesthesia at the time of inclusion was 17.5 ± 11.8 mmHg in the right and 17 ± 8.9 mmHg in the left eyes. In 33% of children with glaucoma mutations in the CYP1B1, FOXC1, LTBP2 and TEK genes were found. The development of specific questionnaires for childhood glaucoma provides detailed baseline data to establish a ReCG in Germany for the first time.

Purpose: To evaluate the clinical characteristics and treatment outcomes of patients with childhood glaucoma. Methods: We retrospectively reviewed the data of patients with childhood glaucoma who visited the glaucoma clinics at the Queen Sirikit National Institute of Child Health and the King Chulalongkorn Memorial Hospital between January 2008 and January 2018. The diagnosis was based on the Childhood Glaucoma Research Network classification. We recorded their clinical characteristics and requirement of any glaucoma interventions. Results: A total of 691 eyes from 423 patients were included in this study. The patients predominantly comprised boys. The average follow-up duration was 71.3±63.8 months. The mean age at presentation was 3.9±4.4 years. Most patients presented with a high initial intraocular pressure (IOP). The average intial IOP of all patients was 28.5±11.2 mmHg. Glaucoma associated with non-acquired ocular anomalies (22.9%) was the most common subtype, followed by primary congenital glaucoma (20.8%). We recorded a family history of glaucoma in 6.4% of patients of the 234 patients with an available family history. Most patients had bilateral glaucoma (63.4%) and required at least one intervention (51.5%). The average IOP at the latest follow-up visit was 19.1±10.8 mmHg. All glaucoma types had significantly lower IOP, compared to that at their baselines (all p<0.001). Moreover, most patients had an unfavourable visual acuity (49.5%) at their latest visit. Conclusions: Secondary glaucoma associated with non-acquired ocular anomalies is the most common subtype of glaucoma. The majority of patients had unfavourable visual outcomes. These real-world findings are fundamental to acquire a better understanding of childhood glaucoma.

UNASSIGNED: To determine the incidence of postoperative complications following combined trabeculotomy trabeculectomy with mitomycin C (CTTM) for congenital glaucoma (CG), in addition to documentation of some unusual complications and possible ways to manage these complications safely with minimal morbidity.
UNASSIGNED: A retrospective observational study was performed on 190 eyes with CG had a CTTM procedure.Included eyes were operated upon between February 2015 and February 2020 in Sohag University Hospitals. Medical records were reviewed and postoperative complications were reported. Incidence of postoperative complications and their management were the main outcome measures.
UNASSIGNED: Early complications developed the form of shallow anterior chamber (AC) (16.3%), hyphema (10.5%), serous choroidal detachment (2%), hemorrhagic choroidal detachment (2%). Unusual and rare complications occurred in the form of iatrogenic Cushing syndrome, unilateral toxic keratopathy developed, vitreous hemorrhage (VH), intercalary staphyloma and decompression retinopathyLate complications included: high postoperative intraocular pressure (IOP) (16.5%), thin cystic blebs (13.1%), hypotony disc edema (2%), cataract (3.2%), one eye developed blebitis and one eye developed endophthalmitis.
UNASSIGNED: Surgical management of CG is full of complications in early and late postoperative periods such as shallow AC, hyphema and thin cystic blebs. Some unusual and rare complications developed such as iatrogenic Cushing syndrome, unilateral toxic keratopathy, vitreous hemorrhage, intercalary staphyloma and decompression retinopathy. If identified early; all these complications could be managed properly leading to a successful and favorable outcome.

To report incidence rates of primary congenital glaucoma in Korea and evaluate comorbidity and mortality from 2001 to 2015.
This study is a nationwide and retrospective population-based study. We used claims data from the Korean National Health Insurance Service database between 2001 and 2015. Data for all patients diagnosed with primary congenital glaucoma were retrieved using the Korean Electronic Data Interchange and Korean Standard Classification of Diseases-6 codes.
The number of patients with primary congenital glaucoma between 2001 and 2015 was 776, of which 437 were male (56.31%) and 339 were female (43.69%). The annual prevalence demonstrated a general decreasing trend since 2011, but this was not significant. Over the total survey period, the incidence rate was 11.0 per 100,000 births, with 12.0 cases among males and 10.0 among females. The incidence according to age was 518 (68.78%) patients at age 0, 112 (13.66%) at 1 year, 70 (8.39%) at 2 years, and 76 (9.17%) at 3 years. Of the 776 patients diagnosed with primary congenital glaucoma in the study population, 27 died. The observed mortality per 100,000 people is about 10 times higher than that of the general infant and child population under the age of 4 years. Visual impairment was the most common accompanying disability, followed by brain lesion.
Our study\'s estimates of the nationwide population-based incidence of primary congenital glaucoma in a Korean population will expand our understanding of the disease and allow healthcare systems to plan for primary congenital glaucoma.

To assess the prevalence, clinical features and risk factors of lower lid epiblepharon among patients with congenital glaucoma.
Cross-sectional, observational, case-control study. Patients diagnosed with congenital glaucoma between August 1999 and November 2014 were included. Demographic and clinical characteristic data were collected. Age-matched normal controls were recruited form general population. Main outcome measures were the prevalence, laterality and factors associated with epiblepharon in patients with congenital glaucoma.
The prevalence of lower lid epiblepharon was higher in patients with congenital glaucoma compared with control group (40.7% vs 13.3%, p<0.001). Unilateral epiblepharon was only shown in patients with congenital glaucoma (47.8% vs 0.0%, p<0.001). Multivariate analysis revealed that high intraocular pressure (IOP) at glaucoma diagnosis (OR=1.122), presence of corneal erosion (OR=82.664) and presence of buphthalmos (OR=12.600) were significantly associated with the presence of lower lid epiblepharon. In addition, unilateral epiblepharon was associated with unilateral buphthalmos and unilateral glaucoma (OR of 49.849 and 7.338, respectively).
The prevalence of epiblepharon was higher in patients with congenital glaucoma compared with age-matched general population. In patients with congenital glaucoma, epiblepharon was associated with corneal erosions. In addition, buphthalmos and initial high IOP were associated with the development of lower lid epiblepharon. More importantly, unilateral buphthalmos was also significantly associated with unilateral epiblepharon. Therefore, in patients with congenital glaucoma, presence of epiblepharon should be evaluated especially in patients accompanying buphthalmos or corneal erosion.

OBJECTIVE: To compare the outcomes of microcatheter-assisted circumferential trabeculotomy to standard rigid probe trabeculotomy in childhood glaucomas.
METHODS: Eyes of children requiring trabeculotomy for primary congenital or secondary paediatric glaucoma were randomized to undergo either trabeculotomy using the Glaucolight illuminated microcatheter, or a rigid probe trabeculotomy. Complete success was defined as an intraocular pressure (IOP) of <18 mmHg without medications.
RESULTS: A total of 62 eyes of 62 patients were included. Of these 30 eyes of 30 patients aged 5.6 ± 4.8 months underwent microcatheter-assisted trabeculotomy, with 15 eyes (50%) having a complete 360° cut, while 15 eyes (50%) had an incomplete cut ranging from 250 to 350 degrees. The rigid probe trabeculotomy group included 32 eyes of 32 patients aged 4.4 ± 3.8 months. At the end of the 2-year follow-up period, the complete success and the failure rates were 67% and 15%, respectively, in the microcatheter-assisted group versus 47% and 50% in the rigid probe trabeculotomy group (p = 0.006). There was a tendency towards lower IOP in the microcatheter group at 1, 3, 6, 12 and 24 months postoperatively, with the difference in IOP reaching statistical significance at 6 months (p = 0.004). The mean survival time was significantly longer for the microcatheter group (p = 0.01).
CONCLUSIONS: At 2 years postoperatively, microcatheter-assisted trabeculotomy still yielded superior results in terms of IOP control and success rates in children with primary congenital glaucoma. The need for reoperation for glaucoma was significantly lower in the microcatheter group.

OBJECTIVE: To compare the outcome of primary trabeculotomy with that of combined trabeculectomy-trabeculotomy (CTT) with mitomycin C (MMC) in children with congenital glaucoma.
METHODS: This is a prospective comparative study, carried out on a cohort of 28 eyes (28 infants) with congenital glaucoma. Infants with proved congenital glaucoma [based on intra-ocular pressure (IOP), cup/disc (C/D ratio), corneal diameter and axial length measurements] were randomly allocated to either group A (trabeculotomy) or group B (CTT with MMC). Postoperatively, all patients were followed regularly for 3 years; for IOP and C/D evaluation. Criteria for successful outcome included resolution of corneal oedema, reversal of disc cupping, and IOP 18 mmHg or less.
RESULTS: Success rate in each group was 85.7% (p = 1.00). All preoperative parameters, including horizontal corneal diameter, axial length, IOP and C/D ratio, were not statistically significantly different between the two groups. Also, postoperative C/D ratio, IOP, IOP difference and percentage difference (compared to preoperative values), at different follow-up visits, were not statistically significantly different between both surgical techniques. Comparing preoperative to postoperative IOP and C/D ratio in each group was statistically significant.
CONCLUSIONS: Both primary trabeculotomy and CTT with MMC had similar outcomes, which could mean that trabeculotomy could be resorted to first.