Comparative posterior corneal profile of keratoconus hydrops versus Haab's striae in congenital glaucoma.

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.

[Glaucoma in infancy and childhood]. / Glaukom im Säuglings- und Kindesalter.

Glaucoma in infancy and childhood is a rare disease. An immediate diagnosis and treatment are absolutely necessary to prevent blindness of affected children. Childhood glaucoma is characterized by a heterogeneous phenotype: besides primary congenital glaucoma, secondary types often exist and the individualized treatment requires an experienced interdisciplinary team. The pathogenesis is not always discernible and genetic alterations sometimes cause the disease. A surgical procedure is usually necessary to lower the intraocular pressure. Refractive and orthoptic care are equally important to avoid amblyopia. This article gives an overview of childhood glaucoma and outlines the most important diagnostic and therapeutic aspects.

Ologen augmentation of Ahmed valves in pediatric glaucomas.

BACKGROUND: We previously showed that Ologen increased success and survival rates of Ahmed glaucoma devices in a small number of children. The current study analyzed the same surgical technique in an expanded cohort. METHODS: Retrospective interventional case series of children who underwent Ologen augmentation of Ahmed glaucoma device (OAGD) from 2018 to 2021 with ≥6 months' postoperative follow-up. Complete success was defined as intraocular pressure (IOP) of 5-20 mm Hg without glaucoma medications or additional IOP-lowering surgeries. Complete or qualified success was defined as above, except that IOP control was maintained with or without glaucoma medications. RESULTS: A total of 26 eyes of 18 patients underwent OAGD at a median age of 2.0 years. Diagnoses included primary congenital glaucoma (5 eyes) and glaucoma secondary to nonacquired ocular anomalies (9 eyes), nonacquired systemic anomalies (8 eyes), and acquired conditions (4 eyes). Seventeen eyes had ≥1 prior eye surgery (average, 1.6 ± 0.9 surgeries per eye). Preoperative IOP was 29.4 ± 9.9 mm Hg on an average of 2.7 ± 1.0 glaucoma medications. At final follow-up (1.3 ± 1.0 years; median 1.0), IOP (13.4 ± 4.7 mm Hg) and number of glaucoma medications (0.3 ± 0.7, median 0) were significantly decreased (P < 0.0001). Complete success was achieved in 77% of eyes (20/26); Kaplan Meier analysis showed 1- and 3-year survival rates of 82% (95% CI, 59-93) and 60% (95% CI, 25-83), respectively. Complete or qualified success was achieved in 100% of eyes (26/26) at final follow-up. There were no visually devastating complications. CONCLUSIONS: OAGD showed a high rate of success defined by decreased IOP and medication dependency in our study cohort of pediatric glaucoma patients.

Etiology and outcomes of childhood glaucoma at a tertiary referral center.

PURPOSE: To describe the etiology, clinical features, and outcomes for a large contemporary cohort of children presenting with glaucoma at a tertiary referral center. METHODS: The medical records of patients presenting to Boston Children's Hospital from January 2014 to July 2019 with a diagnosis of childhood glaucoma were retrospectively reviewed. Data regarding etiology, treatment, and visual and anatomic outcomes were collected; visual acuity outcomes were analyzed by laterality and diagnosis categories, using the Childhood Glaucoma Research Network (CGRN) classifications. RESULTS: A total of 373 eyes of 246 patients (51% males) diagnosed with glaucoma before 18 years of age were identified. Mean follow-up was 7.04 ± 5.61 years; 137 cases were bilateral. The mean age at diagnosis was 4.55 ± 5.20 years. The most common diagnoses were glaucoma following cataract surgery (GFCS, 36.5%) and primary congenital glaucoma (PCG, 29.0%). Overall, 164 eyes (44.0%) underwent at least one glaucoma surgery. Intraocular pressure (IOP) was ≤21 mm Hg with or without glaucoma medications in 300 eyes (80.4%) at the last follow-up visit. Poor final best-corrected visual acuity (≤20/200) was found in 110 eyes; patients with poor final visual acuity tended to have poor visual acuity at presentation. The most common reason for poor vision was amblyopia. Uncontrolled IOP was an uncommon cause for vision loss. CONCLUSIONS: Childhood glaucoma can be challenging to manage, but poor vision usually results from amblyopia or presence of other ocular abnormalities or syndromes rather than glaucomatous optic neuropathy.

Approach to childhood glaucoma: A review.

Childhood glaucoma represents a heterogenous group of rare ocular conditions that may result in significant sight threatening complications related to elevated intraocular pressure (IOP). It can be classified as either primary or secondary and the latter may have systemic associations. This review will be based on the work of the childhood glaucoma research network (CGRN) and will focus on the diagnosis and management of the most common types of childhood glaucoma. These include primary congenital glaucoma (PCG) and juvenile open angle glaucoma (JOAG) as well as secondary causes of glaucoma associated with non-acquired ocular anomalies (Axenfeld-Rieger anomaly; Peters anomaly and Aniridia), glaucoma associated with systemic disease (Sturge Weber syndrome and Neurofibromatosis), those due to acquired conditions (Uveitic glaucoma, trauma and tumours) and importantly glaucoma following cataract surgery.

The Descemet Membrane in Primary Congenital Glaucoma.

PURPOSE: To evaluate Descemet membrane (DM) morphology in eyes with primary congenital glaucoma (PCG) in vivo using high-definition anterior segment optical coherence tomography (ASOCT) and on histopathology. METHODS: Corneal scans of patients with PCG (22 eyes of 15 patients) were evaluated for DM morphology and anterior chamber angle using ASOCT. The DM thickness in PCG eyes was compared with fellow eyes (8 eyes) of unilateral patients with PCG and healthy controls (12 eyes) on ASOCT. The DM morphology was also compared on the histopathology of corneal tissues (9) obtained from PCG eyes after keratoplasty and enucleated eyes of retinoblastoma (6 controls) on light microscopy with immunostaining for collagen IV. RESULTS: On ASOCT, all affected eyes showed the presence of either a thickened DM complex or a hyper-reflective double layer representing the thickened DM and pre-Descemet layer (PDL), unlike a single membrane in the controls and fellow eyes. On ASOCT, among patients with PCG, the DM showed significant thickening (32.0 ± 11.2 µm) versus fellow eyes (14.4 ± 3.3 µm) and controls (11.5 ± 1 µm) (P < 0.001; analysis of variance). The thickened DM complex continued peripherally into the trabecular meshwork as an abnormal membrane in 16/22 affected eyes. On histopathology, thickening of DM was also more among PCG eyes (median: 67.9 µm range: 27.2-214.9) versus controls (median: 27.7 µm, range: 22.1-36.1; P = 0.005) as also of PDL (median: 14 µm, range: 5.9-30.5) of PCG versus (median 3.5, range: 1.3-6.7 µm) in controls; P = 0.014. CONCLUSIONS: Thickening of DM and PDL occurs in eyes with PCG and is seen to have a peripheral extension upto the angle recess.

Choroidal neovascular membrane associated with primary congenital glaucoma and buphthalmos.

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.

Cataract extraction in patients with primary congenital glaucoma.

OBJECTIVE: To assess incidence and risk factors of cataract extraction in patients with primary congenital glaucoma, surgical outcome, and complications. MATERIAL AND METHOD: Retrospective cohort study, in which 108 patients with primary congenital glaucoma were included. Data collected were need for cataract extraction and at what age, intraocular pressure at diagnosis of primary congenital glaucoma, required antiglaucomatous surgeries, possible mutation in the CYP1B1 gene, and final visual acuity. Among the patients who required cataract extraction were visual acuity, intraocular pressure, and complications, evaluated preoperatively and postoperatively. The data were analysed with STATA. RESULTS: A total of 198 eyes of 108 patients were included, with a median follow-up of 8 years (range: 5-53). In all, 32 eyes (16.2%) of 24 patients (22%) required cataract extraction. The median age for cataract extraction was 12.94 years (interquartile range: 2.42-22). The main identified risk factors associated with cataract extraction were antiglaucomatous surgeries (hazard ratio 1.48, p < 0.001) and valvular implant (hazard ratio 2.78, p < 0.001). Lens was implanted in 30/32 eyes and the main complications were intraocular pressure decontrol (n = 13), capsular fibrosis (n = 7), corneal decompensation (n = 4), lens subluxation (n = 4), and endophthalmitis (n = 1). Visual acuity improvement was observed after cataract extraction in 66.67% of eyes. CONCLUSIONS: There is a high incidence of cataract surgery in patients with primary congenital glaucoma, but generally outside of pediatric age. A greater risk of cataract extraction was identified in those patients with a greater number of antiglaucomatous surgeries, especially after valvular implantation. Despite the high rate of complications related to cataract extraction in primary congenital glaucoma, good visual improvement was observed after surgery.

Neglected Congenital Glaucoma With Lens Coloboma.

PURPOSE: To report a case of lens coloboma in a case of neglected primary congenital glaucoma. MATERIALS AND METHODS: A 5-year-old boy was brought by the parents with complaints of diminution of vision in both eyes noticed for 8 months. There was a history of enlargement of eyes since 1 year of age. RESULTS: Clinical examination revealed bilateral large eyes with limbal stretching and Haab striae and lens coloboma in the right eye. Dilated examination revealed scalloped border of the crystalline lens superotemporally with broken zonules and lens coloboma in inferotemporal quadrant with absent zonules. There was advanced optic nerve head cupping in both eyes. This lens coloboma is likely an acquired condition due to extensive stretching of the lens and zonules secondary to globe enlargement in neglected buphthalmos. CONCLUSION: A neglected case of congenital glaucoma can lead to lens subluxation along with lens coloboma.

Congenital Refractory Glaucoma: A New Ophthalmic Association of Kabuki Syndrome and its Management With Glaucoma Drainage Devices.

INTRODUCTION: Kabuki syndrome (KS) is a rare congenital and polymalformative condition, traditionally associated with mental retardation, unusual facial features, and skeletal abnormalities. We hereby describe a case of bilateral congenital glaucoma associated with MLL2-mutation KS. To the best of our knowledge, this is the first association of KS with congenital glaucoma. CASE REPORT: The patient was a 3-year-old male of North African ethnicity diagnosed with KS and bilateral congenital glaucoma at the age of 3 months and the first child of a nonconsanguineous healthy couple, with no known genetic conditions within the family. The patient was referred to our tertiary glaucoma center with uncontrollable intraocular pressures between 50 and 60 mm Hg in both eyes. Past ophthalmic history included bilateral trabeculectomies and right retinal detachment with phthisis bulbi. We performed left lensectomy combined with Baerveldt tube insertion in the vitreous cavity, revealing extensive posterior synechiae. Postoperatively, he developed intense inflammation with fibrin and vitreous strand formation, requiring subsequent surgeries and subconjunctival injections of betamethasone. Despite these complications, IOP stabilized between 3 and 6 mm Hg. DISCUSSION: This case confirms congenital glaucoma as a rare association of KS, and highlights the potential high-risk nature of such cases. In our opinion, the presence of high levels of inflammation perioperatively and postoperatively is an indication for primary glaucoma drainage device surgery given the high risk of bleb scarring resulting in recurrent surgical revisions. In view of these observations, we also advocate the use of intensive postoperative anti-inflammatory therapy.

Clinical Presentation and Management Outcomes of Coexistent Congenital Glaucoma and Retinopathy of Prematurity.

PURPOSE: The purpose of this study was to report presentation and outcomes of coexisting congenital glaucoma with retinopathy of prematurity (ROP) in "Indian Twin cities ROP study (ITCROPS)." METHODS: Children with ROP and congenital glaucoma were identified from ITCROPS (prospective digital database) between 1997 and 2016. The presentation, interventions, and outcomes for glaucoma and ROP were evaluated. RESULTS: Out of 15,000 premature-infants in the database, 3000 children had ROP, and of these 87 eyes of 57 premature children had glaucoma. Five eyes (5.7%) of 3 children in the entire ROP cohort had coexisting congenital glaucoma (before any ROP intervention), 3 eyes of 2 children had primary congenital glaucoma and 2 eyes of one child had glaucoma with microspherophakia. The mean age at surgery was 2.7±0.6 months. At presentation, all eyes had corneal edema, mean corneal diameter was 10.3±0.75 mm and IOP was 20.4±1.67 mm Hg. Three eyes had stage-2 ROP and two eyes had stage-3 ROP. Four eyes received intravitreal Bevacizumab. All eyes underwent combined trabeculotomy with trabeculectomy. Post glaucoma surgery, 2 eyes underwent laser for ROP and 1 eye with stage-2 ROP was observed with no treatment. ROP regressed without any sequalae in all 5 eyes. Two eyes with microspherophakia and one eye with lens coloboma underwent lensectomy. One eye postlensectomy needed Ahmed glaucoma valve implant for IOP control. The mean IOP at last follow-up was 13.6±1.67 mm Hg and all eyes needed topical antiglaucoma medications for IOP control. CONCLUSIONS: Congenital glaucoma coexisting with ROP is a medical emergency. Intravitreal therapy can help tide over the vision-threatening fulminant phase of ROP while awaiting the effect of glaucoma surgery on corneal clarity. The need for medications even after glaucoma surgery suggests severe glaucoma phenotype. Close coordination between subspecialties is needed for best outcomes.

Proptosis masquerading as buphthalmos following glaucoma drainage device surgery in a child with congenital glaucoma.

Glaucoma drainage devices are commonly used in the surgical treatment of children with glaucoma. We report a case of unusually large reservoir formation causing proptosis, exposure keratopathy, and motility deficits. This case highlights the importance of B-scan and axial length measurements in differentiating proptosis from buphthalmos in children with glaucoma. Reducing the reservoir improved the proptosis and resolved the motility and exposure issues.

Treatment of Nonmetastatic Unilateral Retinoblastoma in Children.

Importance: Multi-institutional collaborative studies that include large patient populations for the management of retinoblastoma with histopathological risk factors could provide important information for patient management. Objective: To evaluate the implementation of a strategy for the management of nonmetastatic unilateral retinoblastoma in children based on standardized diagnostic and treatment criteria. Design, Setting, and Participants: This single-arm prospective study applied a strategy based on a single-center experience. The setting was a multicenter study in Latin America (Grupo de America Latina de Oncologia Pediatrica [GALOP]). Participants were children with nonmetastatic unilateral retinoblastoma (staged with the International Retinoblastoma Staging System). The study opened on July 1, 2008, and closed on December 31, 2014. Follow-up was updated until June 30, 2017. Interventions: Stage 0 patients (without enucleation) were given conservative therapy without a protocol. Stage I patients (with enucleation and no residual tumor) were divided into a high-risk group (retrolaminar invasion and/or scleral invasion) and a low-risk group (all remaining patients). High-risk children received adjuvant chemotherapy with 4 alternating cycles of regimen 1 (cyclophosphamide [65 mg/kg/d] [plus sodium-2-mercaptoethane sulfonate], idarubicin hydrochloride [10 mg/m2/d], and vincristine sulfate [0.05 mg/kg/d]) and 4 cycles of regimen 2 (carboplatin [500 mg/m2/d, days 1 and 2] and etoposide [100 mg/m2/d, days 1-3]). Low-risk children did not receive adjuvant therapy. Children with buphthalmia received neoadjuvant and adjuvant chemotherapy for a total of 8 cycles. Main Outcomes and Measures: Probability of event-free survival (extraocular relapse and death from any cause were considered events). Results: Among 187 children registered in the study, 175 were evaluable (92 [52.5%] female; median age, 22 months; age range, 3-100 months). Forty-two were stage 0 children, 84 were stage I low-risk children, and 42 were stage I high-risk children; there were 7 children in the buphthalmia group. With a median follow-up of 46 months, the 3-year probability of event-free survival was 0.97 (95% CI, 0.94-0.99), and the probability of overall survival was 0.98 (95% CI, 0.94-1.00). Stage 0 patients had no events, stage I low-risk patients had 1 event (orbital relapse treated with second-line therapy), stage I high-risk patients had 2 events (1 central nervous system relapse and 1 death from sepsis), and the buphthalmia group had 1 event (orbital relapse, followed by central nervous relapse and death). Conclusions and Relevance: Adjuvant therapy may be effective for high-risk unilateral retinoblastoma but is toxic, and neoadjuvant chemotherapy for buphthalmus appears feasible.

Epiblepharon in congenital glaucoma: case-control study.

BACKGROUND/AIMS: To assess the prevalence, clinical features and risk factors of lower lid epiblepharon among patients with congenital glaucoma. METHODS: 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. RESULTS: 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). CONCLUSIONS: 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.

SCLERAL AND CHOROIDAL THICKNESS IN SECONDARY HIGH AXIAL MYOPIA.

PURPOSE: To assess differences in scleral and choroidal thickness between eyes with secondary high axial myopia caused by congenital glaucoma, eyes with primary high axial myopia, and nonhighly myopic eyes. METHODS: The study consisted of 301 Chinese individuals with a mean age of 23.9 ± 22.6 years and mean axial length of 24.8 ± 4.2 mm. It included the "secondary highly myopic group" (SHMG) because of congenital glaucoma (n = 20 eyes; axial length >26.0 mm), the "primary highly myopic group" (PHMG) (n = 73; axial length >26.0 mm), and the remaining nonhighly myopic group (NHMG). RESULTS: The secondary highly myopic group versus the primary highly myopic group had significantly thinner sclera in the pars plana region (343 ± 71 µm versus 398 ± 83 µm; P = 0.006), whereas scleral thickness in other regions did not differ significantly between both highly myopic groups and was significantly thinner in both highly myopic groups than in the NHMG. Mean total scleral volume did not differ significantly (P > 0.20) between any group (SHMG: 659 ± 106 µm; PHMG: 667 ± 128 µm; NHMG: 626 ± 135 µm). Choroidal thickness was significantly thinner in both highly myopic groups than in the NHMG, with no significant differences between both highly myopic groups. Choroidal volume did not differ significantly (P > 0.40) between any of the groups (SHMG: 43 ± 12 µm; PHMG: 43 ± 13 µm; NHMG: 46 ± 17 µm). CONCLUSION: In secondary high axial myopia, the sclera gets thinner anterior and posterior to the equator; whereas in primary high axial myopia, scleral thinning is predominantly found posterior to the equator. Because volume of sclera and choroid did not differ between any group, scleral and choroidal thinning in myopia may be due to a rearrangement of tissue and not due to the new formation of tissue.