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.

UNASSIGNED: Retinal detachment is a major postsurgical threat in pediatric cataract surgery; however, the effect of axial length remains unclear. This study aimed to assess the relationship between axial length and detachment risk in vulnerable patients.
UNASSIGNED: This retrospective cohort study analyzed 132 eyes of 84 pediatric cataract surgery patients aged <20 years old. Axial length was measured preoperatively, and the incidence of retinal detachment was recorded over a median follow-up of 4 years. Logistic regression analysis was used to examine the axial length-detachment relationship.
UNASSIGNED: Twenty eyes had postoperative retinal detachments. The median axial length was longer in the detachment group (23.6 mm) than in the non-detachment group (21.6 mm). Eyes with axial length ≤23.4 mm had 0.55-fold decreased odds of detachment compared to longer eyes. Preexisting myopia and glaucoma confer heightened risk. Approximately half of the patients retained some detachment risk eight years postoperatively.
UNASSIGNED: Shorter eyes (axial length ≤23.4 mm) appear to be protected against pediatric retinal detachment after cataract surgery, whereas myopia, glaucoma, and axial elongation > 23.4 mm elevate the postoperative risk. Understanding these anatomical risk profiles requires surgical planning and follow-up care of children undergoing lensectomy.
This study investigated the protective role of a shorter axial length in preventing retinal detachment after pediatric cataract surgery. This highlights the correlation between smaller eye sizes and reduced detachment risk, emphasizing the need for careful consideration of anatomical factors in surgical planning and patient monitoring, particularly for patients with preexisting myopia or postoperative glaucoma.

Childhood glaucoma (CG) encompasses a heterogeneous group of genetic eye disorders that is responsible for approximately 5% of childhood blindness worldwide. Understanding the molecular aetiology is key to improving diagnosis, prognosis and unlocking the potential for optimising clinical management. In this study, we investigated 86 CG cases from 78 unrelated families of diverse ethnic backgrounds, recruited into the Genomics England 100,000 Genomes Project (GE100KGP) rare disease cohort, to improve the genetic diagnostic yield. Using the Genomics England/Genomic Medicine Centres (GE/GMC) diagnostic pipeline, 13 unrelated families were solved (13/78, 17%). Further interrogation using an expanded gene panel yielded a molecular diagnosis in 7 more unrelated families (7/78, 9%). This analysis effectively raises the total number of solved CG families in the GE100KGP to 26% (20/78 families). Twenty-five percent (5/20) of the solved families had primary congenital glaucoma (PCG), while 75% (15/20) had secondary CG; 53% of this group had non-acquired ocular anomalies (including iris hypoplasia, megalocornea, ectopia pupillae, retinal dystrophy, and refractive errors) and 47% had non-acquired systemic diseases such as cardiac abnormalities, hearing impairment, and developmental delay. CYP1B1 was the most frequently implicated gene, accounting for 55% (11/20) of the solved families. We identified two novel likely pathogenic variants in the TEK gene, in addition to one novel pathogenic copy number variant (CNV) in FOXC1. Variants that passed undetected in the GE100KGP diagnostic pipeline were likely due to limitations of the tiering process, the use of smaller gene panels during analysis, and the prioritisation of coding SNVs and indels over larger structural variants, CNVs, and non-coding variants.

Glaucoma is a prevalent neurodegenerative disease. It causes progressive visual loss and is one of the most common causes of blindness worldwide. It can be categorized into open-angle or closed-angle glaucoma. Primary congenital glaucoma (PCG) is a subdivision of open-angle glaucoma. Non-penetrating deep sclerectomy (NPDS) is a surgical method for managing open-angle and primary congenital glaucoma, which was first introduced in 1990. During NPDS, a sclera flap is raised but not completely removed, and the outer part of Schlemm\'s canal and trabecular meshwork, along with the juxtacanalicular tissue, are excised without completely penetrating the eye. Therefore, it is considered a safe and efficient option for controlling intraocular pressure. This report shows a unique case of uncommon complication post-deep sclerectomy, a giant retinal tear, after undergoing non-penetrating deep sclerectomy for primary congenital glaucoma.

OBJECTIVE: To identify patient-reported outcome measures (PROMs) that have been used in children and adolescents with glaucoma and to evaluate their methodologic quality.
CONCLUSIONS: Childhood glaucoma impairs vision and quality of life (QoL) throughout all stages of life. Thus, a PROM needs to cover many different age groups and topics. Various instruments have been used to evaluate patient-reported outcomes (PROs) in patients with childhood glaucoma, however, it is unclear which PROM has the highest methodologic quality and complies best with the needs of patients with childhood glaucoma.
METHODS: A systematic literature review was performed searching MEDLINE (PubMed), the Cochrane Library, Web of Science, and PsycINFO (EBSCO). We included peer-reviewed full-text articles of the past 10 years in English, German, or Spanish language that reported PROMs in children with glaucoma. The study selection and methodologic quality assessment of the identified PROMs was performed by 2 independent reviewers using a 7-point checklist. The content was mapped onto the World Health Organization International Classification of Functioning, Disability and Health. The systematic review was prospectively registered in PROSPERO (ID CRD42022353936).
RESULTS: The search strategy retrieved 3295 matches. A total of 2901 studies were screened, and 11 relevant articles were identified using 10 different instruments. The instruments addressed functional visual ability, vision-related QoL, health-related QoL, and life satisfaction. Six instruments were applicable for the use in children. Seven of the questionnaires received the highest number of positive ratings (5/7). None of the instruments considered the views of patients with childhood glaucoma during their development.
CONCLUSIONS: This systematic review provides a descriptive catalog of vision-specific and generic health PRO instruments that have been used in childhood glaucoma cohorts. An instrument specifically developed for childhood glaucoma is lacking which might result in missing important factors, such as permanent treatment with eye drops, repeated surgeries, and heritability of the disease, when investigating the QoL in children with glaucoma.
BACKGROUND: Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

UNASSIGNED: To describe a novel technique for repair of rhegmatogenous retinal detachment in an eye with a previous non-valved glaucoma drainage device, the Aurolab Aqueous Drainage Implant (AADI).
UNASSIGNED: A 5-year-old child with bilateral primary congenital glaucoma presented with an inferior retinal detachment (RD) in the left eye. The left eye had a history of multiple surgical interventions including combined trabeculotomy and trabeculectomy done twice, AADI implantation and subsequently phacoaspiration with IOL implantation, 18 months prior to presentation. The left eye retinal detachment was managed by scleral buckling technique using the plate of the AADI as a buckling element without its explantation.
UNASSIGNED: AND IMPORTANCE: Management of retinal detachment in eyes with a pre-existing glaucoma drainage device (GDD) is uniquely challenging. Explantation of the GDD would likely result in intractable glaucoma post-operatively, requiring another surgery. Use of the trimmed plate of the GDD itself as the buckling element helped in settling the RD and preserving intraocular pressure control.

UNASSIGNED: There have been studies on the use of cognitive behavioral nursing intervention (CBNI) but the main subjects were patients with secondary glaucoma and there are fewer studies on the care of congenital glaucoma.
UNASSIGNED: To explore the clinical value of cognitive behavioral nursing model in patients with congenital glaucoma.
UNASSIGNED: One hundred and fifty-three postoperative patients with congenital glaucoma treated in our hospital between January 2021 and December 2022 were prospectively selected for the study and randomly divided into a control group (n= 77) and an observation group (n= 76). The control group was given routine nursing, and the observation group was given cognitive behavioral nursing mode on the basis of the control group. Anxiety self-assessment scale (SAS), depression self-assessment scale (SDS), Connor-Davidson toughness scale, and treatment adherence evaluation scale were used to evaluate the psychological state, mental toughness, treatment adherence, treatment effect and nursing care satisfaction in the two groups before and after 2 weeks of intervention. The efficacy of the treatment was also assessed by determining the visual acuity (VA), intraocular pressure (IOP), and mean defective (MD) value of the visual field of the two groups of patients.
UNASSIGNED: After nursing, the SDS score (46.33 ± 6.16 versus 53.21 ± 5.94) and SAS score (44.41 ± 5.6 versus 52.82 ± 6.31) in the observation group were lower than those in the control group (P< 0.05). The scores of optimism (11.55 ± 1.90 versus 8.20 ± 1.95), self-improvement (22.05 ± 3.60 versus 17.60 ± 4.30), tenacity (37.45 ± 3.10 versus 28.90 ± 4.55) and total score (71.35 ± 8.00 versus 56.85 ± 8.50) in the observation group were higher than those in the control group (P< 0.05). After care, the VA of the observation group (0.95 ± 0.22) was greater than that of the control group (0.84 ± 0.16), and the IOP (14.25 ± 0.58 versus 15.89 ± 0.67) and the MD (5.42 ± 0.46 versus 6.68 ± 0.49) of the observation group were less than that of the control group. The difference between the two groups was statistically significant (P< 0.05). The compliance (96.05% versus 85.71%) and nursing satisfaction (96.10% versus 85.71%) of the observation group were higher than those of the control group (P< 0.05).
UNASSIGNED: Cognitive-behavioural nursing care for glaucoma patients can improve patients\' mental toughness, improve visual acuity, reduce intraocular pressure and mean visual field defect values, and have a positive effect on enhancing patients\' treatment adherence and nursing satisfaction.

OBJECTIVE: To detect and characterise visual field (VF) defects using static Octopus perimetry in patients with primary congenital glaucoma (PCG) and to determine VF quality and time duration.
METHODS: Eighty-eight eyes of 70 patients diagnosed with PCG were included. Assessments were performed using an Octopus 900 and each eye was assessed with the tendency-oriented perimetry (G-TOP) algorithm. Quantitative VF data were collected: quality data (false positive and negative response, and time duration) and results of mean deviation (MD) and square root of loss variance (sLV). Qualitative data were collected: the presence of diffuse and localized defects, the affected hemifield and grade of defects using the Aulhorn and Karmeyer classification. Correlations between perimetric results and clinical variables were analysed.
RESULTS: Median age was 11 (8-17) years. 65.9% (58/88) of PCG eyes showed VF defects. Diffuse defects were observed in 10/58 eyes (16.94%) (mean MD = 23.92 [SD: 2.52]) dB) and localized defects in 48/58 eyes (82.75%). The most frequent defect was spot-like/stroke-like/incipient paracentral scotoma (n = 15), nasal step (n = 8), adding arcuate defect (n = 2), half ring-shaped (n = 13) and concentric defect with a central island (n = 9). And the most frequent affected visual hemifield was inferior hemifield. Mean test duration was 2 min 12 s (SD: 21.6 s). MD and sLV values were correlated with best corrected visual acuity (BCVA), cup to disc ratio and number of antiglaucoma surgeries (all P < .001).
CONCLUSIONS: A high number of diffuse and localized defects were identified using Octopus perimetry in PCG patients. The most frequent defect was paracentral scotoma and inferior hemifield was the most affected.

BACKGROUND: Aicardi-Goutières syndrome (AGS) is a rare genetic disorder characterized by microcephaly, white matter lesions, numerous intracranial calcifications, chilblain skin lesions and high levels of interferon-α (IFN-α) in the cerebrospinal fluid (CSF). However, ocular involvement is reported significantly less frequently.
METHODS: We present a case of a neonate with hypotrophy, microcephaly, frostbite-like skin lesions, thrombocytopenia, elevated liver enzymes and hepatosplenomegaly. Magnetic resonance imaging (MRI) of the brain showed multiple foci of calcification, white matter changes, cerebral atrophy, and atrophic dilatation of the ventricular system. The inflammatory parameters were not elevated, and the infectious etiology was excluded. Instead, elevated levels of IFN-α in the serum were detected. Based on the related clinical symptoms, imaging and test findings, the diagnosis of AGS was suspected. Genetic testing revealed two pathogenic mutations, c.490C>T and c.222del (novel mutation), in the three prime repair exonuclease 1 (TREX1) gene, confirming AGS type 1 (AGS1). An ophthalmologic examination of the child at 10 months of age revealed an impaired pupillary response to light, a corneal haze with Haab lines in the right eye (RE), pale optic nerve discs and neuropathy in both eyes (OU). The intraocular pressure (IOP) was 51 mmHg in the RE and 49 in the left eye (LE). The flash visual evoked potential (FVEP) showed prolonged P2 latencies of up to 125% in the LE and reduced amplitudes of up to approximately 10% OU. This girl was diagnosed with congenital glaucoma, and it was managed with a trabeculectomy with a basal iridectomy of OU, resulting in a reduction and stabilization in the IOP to 12 mmHg in the RE and 10 mmHg in the LE without any hypotensive eyedrops.
CONCLUSIONS: We present the clinical characteristics, electrophysiological and imaging findings, as well as the genetic test results of a patient with AGS1. Our case contributes to the extended ophthalmic involvement of the pathogenic c.490C>T and c.222del mutations in TREX1.

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.