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

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

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

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

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

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

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

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

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

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