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OBJECTIVE: To study the fellow eyes of patients with unilateral primary congenital glaucoma (PCG) using optical coherence tomography angiography (OCTA) and compare them to normal age- and refractive error-matched healthy controls.
METHODS: Using OCTA, the foveal avascular zone (FAZ) area, cup:disk ratio, vessel density (VD) of the optic nerve head (ONH) and peripapillary area and the macular VD in superficial (SCP) and deep vascular complexes in both 3 mm and 6 mm scans of both groups were compared. Clinical data included best-corrected visual acuity (BCVA), cycloplegic refraction, intraocular pressure (IOP), anterior and posterior segments examination findings, including ONH cup:disk ratio.
RESULTS: A total of 48 eyes of 48 children (24 eyes in each group) were included. There was no difference in the mean retinal nerve fiber layer thickness, cup:disk ratio, baseline visual acuity, or spherical equivalent between groups (P > 0.05). In the 3 mm macular scan, the VD of the SCP at the fovea was significantly higher in the PCG group compared to controls (P = 0.04). In the ONH scans, there was a significantly reduced inside the disk VD in the PCG group compared to controls (P = 0.03). There was no significant difference in other macular and ONH vascular parameters between groups (P > 0.05).
CONCLUSIONS: In our study cohort, there was no difference in most of the macular and ONH vascular parameters between groups. However, the fellow eyes of PCG patients exhibited higher VD of the SCP at the fovea and reduced inside the disk VD compared with control eyes.

To describe a novel association of TGFBI variants with congenital glaucoma in a family with GAPO (growth retardation, alopecia, pseudoanodontia, and progressive optic atrophy) syndrome, as well as among other unrelated cases of juvenile onset open-angle glaucoma (JOAG) and primary congenital glaucoma (PCG).
This study of one family of GAPO with congenital glaucoma and three unrelated patients with JOAG analyzed a common link to glaucoma pathogenesis. Three girls with GAPO syndrome born to consanguineous parents in a multi-generation consanguineous family were identified. Two of the girls had congenital glaucoma in both eyes, while the elder sibling (a 10-year-old female) had features of GAPO syndrome without glaucoma.
A genetic evaluation using whole exome sequencing revealed a novel homozygous ANTXR1 mutation in all three affected siblings with GAPO. No other mutations were detected in the genes associated with glaucoma. A rare missense variant in the TGFBI gene was shared in the two siblings with congenital glaucoma and GAPO syndrome. We found three other unrelated patients with JOAG and one patient with primary congenital glaucoma with no known glaucoma causing gene mutations, but having four different missense variants in the TGFBI gene. One of these patients with JOAG had familial granular corneal dystrophy. Molecular dynamic simulations of TGFBI and 3-D structural models of three of its variants showed significant alterations that could influence TGFBI protein function.
The possibility that variations in the TGFBI gene could have a possible role in the pathogenesis of congenital and juvenile onset open-angle glaucomas needs further evaluation.

Keratoconus eyes develop corneal decompensation more often compared to eyes with primary congenital glaucoma (PCG) following Descemet\'s membrane (DM) tear. This study was conducted to compare the posterior corneal morphology in areas with DM breaks with regards to DM and pre-Descemet\'s layer (PDL) between the two. In this cross-sectional comparative study, anterior segment optical coherence tomography (AS-OCT) scans of the posterior cornea of advanced keratoconus eyes with hydrops ( n = 12), PCG eyes with Haab\'s striae ( n = 15), and healthy control eyes ( n = 14) were compared for DM-PDL morphology. These were further corroborated by the histopathology of corneal buttons from keratoconus ( n = 14) and PCG ( n = 13) cases obtained following penetrating keratoplasty and compared with controls (enucleated retinoblastoma globes, n = 6) on light microscopy and collagen IV immunostaining. AS-OCT showed a thicker median DM/PDL complex in PCG (80 µm) versus keratoconus eyes (36 µm, P = 0.01; Kruskal-Wallis test). The median height and length of detached DM-PDL were significantly more in keratoconus versus PCG (145 μm, 1766.1 ± 1320.6 μm vs. 26.5 μm, 453.3 ± 303.2 μm, respectively, P = 0.012; Kruskal-Wallis test). Type-1 DM/PDL detachment (seen as a characteristic taut chord) in keratoconus (90%) was the most common morphological pattern versus intracameral twin protuberance (92%) following DM breaks in PCG. Histopathology confirmed thicker DM in PCG (median: 63.4 μm) versus keratoconus eyes (median: 33.2 µm) or controls (27.1 μm) ( P = 0.001; Kruskal-Wallis test). Greater height/length of DM/PDL detachment compounded by poor healing response (lower DM/PDL thickness) probably causes more frequent corneal decompensation in keratoconus eyes when compared to PCG eyes following DM tears.

OBJECTIVE: Evaluation of long-term functional and structural outcomes in patients with primary congenital glaucoma (PCG) based on visual acuity (VA), visual field (VF) using standard automated perimetry, and peripapillary retinal nerve fibre layer thickness (pRNFL).
METHODS: We retrospectively reviewed medical records of all patients diagnosed with PCG in Denmark from 1977 to 2016. Severe vision loss was defined as VA <6/60 and/or VF >20 decibels (dB). Prognostic factors were evaluated in a correlation matrix.
RESULTS: The median age of the 94 patients (153 PCG eyes) was 12 years (IQR 9-16). In PCG eyes 62% had VA ≥6/18 but 22% had <6/60. VA in the better seeing eye was ≥6/18 in 90% and <6/60 in 5%. VF was measured in 59 PCG eyes and the median mean defect was 5.1 dB (IQR 2.1-9.6) with 52% better than 6 dB and 9% worse than 20 dB. Generalized pRNFL was reduced below the age-expected 1st percentile in 29% of the 58 PCG eyes where pRNFL was measured. Poor VA, poor VF and reduced pRNFL were all correlated (p = 0.0001). More surgeries (p < 0.0001) and longer diagnostic delay (p = 0.004) were associated with poorer vision and to a lesser degree with poor VF pRNFL.
CONCLUSIONS: In Denmark, most patients with bilateral PCG retain VA ≥6/18 in the better seeing eye. Poor VA was associated with poor VF. Longer diagnostic delay and more surgeries were associated with a poorer prognosis.

A 2-year-old girl presented for evaluation of glaucoma suspect status. Despite her lack of buphthalmia, her clear corneas, and absence of Haab\'s striae, she was found to have an intraocular pressure of 45 mm Hg in the right eye and 47 mm Hg in the left eye and significant optic nerve cupping. Both eyes were initially treated with goniotomies, trabeculotomies, and later Baerveldt glaucoma implants. She was diagnosed with Singleton-Merten syndrome from a DDX58 pathogenic variant, with congenital glaucoma, juvenile progressive high myopia, hypoplastic nails, and abnormal dentition.

To evaluate the outcomes of microcatheter-assisted trabeculotomy (MAT) in childhood glaucoma (primary congenital glaucoma [PCG], juvenile open-angle glaucoma [JOAG], and secondary childhood glaucoma [SCG]) after failed glaucoma surgery.
Retrospective interventional case series.
Patients with childhood glaucoma who underwent MAT after failed glaucoma surgery with at least 12 months of follow-up were evaluated. Pre- and postoperative intraocular pressure (IOP) and the number of glaucoma medications were recorded and compared. Success was defined as an IOP ≤21 mm Hg with or without glaucoma medication. Analysis of variance was used to compare the glaucoma subgroups.
Forty-five eyes (42 patients) with a median follow-up period of 19 months were included. The median age at the time of MAT was 10 (range, 0.8-33) years. The mean number of previous surgeries was 1.3 ± 0.5. The IOP had significantly reduced from baseline in all PCG, JOAG, and SCG patients (27.9 ± 4.5 vs 16.3 ± 8.0 mm Hg, P = .001; and 30.8 ± 9.4 vs 13.5 ± 3.0 mm Hg, P < .001; and 31.5 ± 7.1 vs 16.5 ± 5.3 mm Hg, P = .001, respectively). Fewer glaucoma medications were needed after MAT in all 3 groups (each P < .001). At the last visit, the total success rates in PCG, JOAG, and SCG were 93.8%, 100%, and 88.9%, respectively. No severe complications were observed.
MAT can effectively manage PCG, JOAG, and SCG after failed surgeries, providing successful outcomes and no serious complications. Following failed glaucoma surgeries, MAT may offer these patients with childhood glaucoma an excellent opportunity to achieve IOP control.

OBJECTIVE: To report the profile of newly diagnosed childhood glaucoma using the Childhood Glaucoma Research Network (CGRN) classification, presenting over 1 year from across centers in India.
METHODS: Prospective observational multicentric study.
METHODS: Newly diagnosed children aged < 18 years diagnosed with childhood glaucoma according to CGRN criteria presenting between January and December 2019 to 13 centers across India.
METHODS: All children underwent a comprehensive ocular examination, including examination under anesthesia for younger children, and were diagnosed with childhood glaucoma as per CGRN. Data were entered in a standard Excel chart. Refraction and visual acuity assessments were done when feasible.
METHODS: The profile of newly diagnosed childhood glaucoma in different parts of India and the severity of glaucoma at presentation.
RESULTS: A total of 1743 eyes of 1155 children fulfilled the definition of glaucoma and were analyzed. Primary congenital glaucoma (PCG) comprised the single largest group (34.4%), most of which were infantile onset (19%). Neonatal-onset PCG comprised 6.2% of all glaucoma. Secondary glaucoma constituted 53.4% of all glaucoma, one-half of which were acquired conditions (28%), followed by isolated ocular anomalies (14.7%), glaucoma after cataract surgery (6.7%), and glaucoma with nonacquired systemic diseases (4.5%). Of the 1743 eyes with glaucoma, all 3 parameters for severity grading were available in 842 eyes, of which 501 (59.5%) eyes presented with mild, 320 (38%) with moderate, and 21 (2.5%) with severe glaucoma. Nearly one-third of the children (28.5%) were not brought back for follow-up after the initial treatment given.
CONCLUSIONS: Our study has one of the largest numbers of consecutive children with glaucoma classified according to the CGRN classification. Despite a widely diverse population, the profile of childhood glaucoma was relatively uniform across India. Childhood glaucoma is a significant problem in India, primarily treated in tertiary care hospitals. The data presented may be the tip of the iceberg because we have only reported the children who reached the hospitals offering treatment for this challenging disease.
BACKGROUND: The author(s) have no proprietary or commercial interest in any materials discussed in this article.

OBJECTIVE: To determine the association between different neighborhood environment factors and the outcomes of childhood glaucoma.
METHODS: A retrospective cohort.
METHODS: Childhood glaucoma patients ≤ 18 years of age at the time of diagnosis.
METHODS: A retrospective chart review of childhood glaucoma patients who presented to Boston Children\'s Hospital between 2014 and 2019. Data collected included etiology, intraocular pressure (IOP), management, and visual outcomes. Child Opportunity Index (COI) was used as a metric of neighborhood quality.
METHODS: The association of visual acuity (VA) and IOP with COI scores using linear mixed-effect models, adjusting for individual demographics.
RESULTS: A total of 221 eyes (149 patients) were included. Of these, 54.36% were male and 56.4% were non-Hispanic Whites. The median age at the time of presentation was 5 months for primary glaucoma and 5 years for secondary glaucoma. The median age at the last follow-up was 6 and 13 years for primary and secondary glaucoma, respectively. A chi-square test revealed that the COI, health and environment, social and economic, and education indexes between primary and secondary glaucoma patients were comparable. For primary glaucoma, the overall COI and a higher education index were associated with a lower final IOP (P < 0.05), and higher education index was associated with a lower number of glaucoma medications at the last follow-up (P < 0.05). For secondary glaucoma, higher overall COI, health and environment, social and economic, and education indices were associated with better final VA (lower logarithms of the minimum angle of resolution VA) (P < 0.001).
CONCLUSIONS: Neighborhood environment quality is a potentially important variable for predicting outcomes in childhood glaucoma. Lower COI scores were associated with worse outcomes.
BACKGROUND: Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

The research activity in pediatric glaucoma (PG) was qualitatively and quantitatively evaluated using a scientometric approach.
The \"Web of Science\" database was accessed for primary bibliometric data regarding PG using search terms \"pediatric glaucoma,\" \"paediatric glaucoma,\" \"congenital glaucoma,\" and \"childhood glaucoma.\" The data was analyzed for total research productivity, citations, and scientific output in terms of journals, countries, institutions, and authors. The results were further characterized for coauthorship links and visualized by VOS viewer software. Also, the top 25 cited articles were reviewed with the above bibliometric characteristics.
One thousand two hundred and sixty-nine items were obtained from our search query from 1955 to 2022; these received 15,485 citations, originated from 78 countries. The top-3 contributing countries were the United States of America (n = 369), India (n = 134), and China (n = 127). LV Prasad Eye Institute (n = 58), Duke University (n = 44), and King Khalid Eye Specialist Hospital (n = 42) were the top-3 productive institutes. The top-3 prolific authors were Mandal AK (n = 53), Freedman, SF (n = 36), and Sarfarazi, M (n = 33). Journal wise, \"Investigative Ophthalmology\" (n = 187), \"Journal of Glaucoma\" (n = 92), and \"Journal of AAPOS\" (n = 68) were the journals in which the most articles were published. The top-25 cited documents received 3564 citations and were published between 1977 and 2016. The key areas of interest were basic sciences (genetics of childhood glaucoma) and surgical management.
United States of America, LVPEI, Mandal AK, and \"Investigative Ophthalmology\" were the top rankers as far as the productivity and publications related to PG are concerned. Articles on molecular genetics in PG have received interest among the ophthalmology community.