To evaluate the effectiveness and safety of gonioscopy-assisted transluminal trabeculotomy (GATT) in managing early-onset glaucoma secondary to Sturge-Weber syndrome (SWS). A retrospective interventional case series. Medical records of 16 patients (22 eyes) diagnosed with early-onset glaucoma secondary to SWS who underwent GATT surgery were reviewed. All patients underwent GATT surgery using a 5-0 or 6-0 prolene suture under general anesthesia. The primary outcomes were intraocular pressure (IOP) reduction, complete surgical success (IOP ≤ 18 mmHg without medications), qualified surgical success (IOP ≤ 18 mmHg with medications), and postoperative complications. The mean IOP decreased significantly from 25.4 ± 4.8 mmHg at baseline to 15.7 ± 4.2 mmHg at the final follow-up (P < 0.001), representing a 38.19% reduction. The mean age at the time of GATT surgery was 33.6 ± 33.9 months. The mean follow-up duration was 16.3 ± 6.4 months. Complete surgical success was achieved in 45.4% of eyes (10 out of 22), while qualified success was reached in 81.8% of eyes (18 out of 22). Despite the overall success, 18.1% of eyes (4 eyes) required additional surgical interventions during the follow-up period. These included Ahmed glaucoma valve implantation in 1 eye, trabeculectomy in 2 eyes, and transscleral diode laser cyclophotocoagulation in 1 eye. Transient hyphema was the only reported complication, resolving spontaneously within 1 week without further intervention. Gonioscopy-assisted transluminal trabeculotomy appears to be a promising surgical option for managing early-onset glaucoma in patients with SWS, offering significant IOP reduction and a favorable safety profile within the limitations of our study. However, further studies with longer follow-up periods and comparative groups are necessary to confirm these findings. The author(s) have no proprietary or commercial interest in any materials discussed in this article. Primary congenital glaucoma (PCG) is a category of glaucoma characterized by chronic and progressive visual neuropathies that result in irreversible blindness. The classification pertains to childhood glaucoma cases, characterized by unique clinical features with an onset before 18 years of age. Genetic mutations leading to early-onset glaucoma are uncommon yet significant. Childhood glaucoma constitutes a notable category within early-onset glaucoma cases. Diagnosis is generally established through specific clinical criteria, including elevated intraocular pressure (IOP), optic nerve damage, corneal alterations, or visual field defects indicative of optic neuropathy. PCG involves impairment of the normal drainage of aqueous fluid in the eye, predominantly arising from developmental abnormalities in the trabecular meshwork and anterior chamber angle, resulting in elevated IOP. This untreated pressure damages the optic nerve, resulting in subsequent vision loss. The disease's natural history frequently advances swiftly in the absence of intervention, exhibiting a marked tendency for bilateral involvement. Therefore, timely diagnosis and intervention are crucial for maintaining vision. The trabecular meshwork of the eye is essential for regulating aqueous humor outflow. This route is either aberrant or obstructed in PCG, resulting in increased IOP. The anterior chamber angle, comprising features such as the Schlemm canal and trabecular meshwork, is essential for proper fluid drainage. Irregularities in these structures in patients with PCG obstruct the correct passage of aqueous humor from the eye, leading to increased IOP, which damages the optic nerve and the retinal nerve fiber layer. Comprehending the anatomical foundation of PCG is essential for clinical assessment and surgical intervention. Hippocrates first described PCG when he noted abnormally enlarged eyes in infants. The pathogenesis of increased IOP and angle abnormalities were later correlated with this entity. PCG is also referred to as developmental glaucoma, as it might not always be present at birth. Subtypes of PCG correlate with the age of onset of the disease.These subtypes are: True congenital glaucoma: Also known as newborn glaucoma, this subtype accounts for approximately 25% of cases of PCG. In true congenital glaucoma, the child is either born with ocular enlargement or enlargement of the eyes is noticed within the 1st month of life. The elevation IOP likely occurs during fetal life. Infantile glaucoma: This subtype of PCG includes patients who manifest symptoms between ages 1 and 36 months and accounts for approximately 65% of patients with PCG. Juvenile glaucoma: This subtype accounts for approximately 10% of cases of PCG and includes patients with signs of elevated IOP that manifest between 3 years and adulthood. The Hoskin classification is another classification system for PCG. This system is based on the area of dysgenesis and comprises 3 types. Hoskin type I is referred to as PCG; types II and III are considered secondary congenital glaucoma. Type I, Trabeculodysgenesis: The defect lies in the development of trabecular meshwork. Type II, Iridotrabeculodysgenesis: This includes hypoplasia or hyperplasia of the stroma, anomalous iris vessels, or structural defects in the form of coloboma or aniridia. Type III, Corneotrabeculodysgenesis : This includes complex cases of congenital glaucoma like Axenfield, Rieger, or Peters anomaly. In conjunction with prominent ophthalmological organizations, the Childhood Glaucoma Research Network (CGRN) has established a consensus-driven classification system for childhood glaucoma. This method classifies childhood glaucoma into primary and secondary glaucoma. Primary pediatric glaucoma encompasses PCG and juvenile open-angle glaucoma (JOAG). PCG, the predominant nonsyndromic variant in infancy, can be further categorized by the age of onset into neonatal or newborn onset (within 1 month of age), infantile (1 month to 2 years of age), or late-onset (older than 2 years of age) classifications. PCG usually manifests in neonates or infants with symptoms such as buphthalmos (enlarged eyes) and Haab striae (corneal striae). In contrast, JOAG is typically asymptomatic and frequently identified in older children or discovered incidentally during family screenings. Conversely, secondary childhood glaucoma arises from nonacquired ocular defects, nonacquired systemic disorders, acquired conditions, or complications following cataract surgery. This classification facilitates the differentiation of glaucoma subtypes and guides treatment methods, acknowledging the impact of hereditary factors and systemic circumstances on disease progression.

Our study aimed to evaluate the utility of the anterior segment morphometry for objectively assessing anterior segment architectural changes of corneal clouding in the mucopolysaccharidoses (MPS) cohort and to investigate whether these measurements correlate with the slit-lamp findings on the cornea and early diagnosis of glaucoma. This retrospective study involved 70 eyes of 35 children with cloudy cornea due to MPS variants. Anterior segment architectural alterations were measured using anterior segment imaging and biometry in MPS children and compared with controls. Mean age of the cohort at the time of assessment was 7.9 ± 4.5 years. Males constituted two-thirds of the cohort. Variants of MPS with cloudy cornea were as follows: Type I (62%), Type IV (11%), and Type VI (22%). Morphometric measurements were available in 22 eyes of 11 MPS children and an age-matched healthy control group. There were significant differences between MPS cohort and controls in refraction in Diopters (5.03 ± 0.39 and 0.01 ± 0.04; P < 0.0001), axial length (AXL) in mm (21.39 ± 0.28 and 23.04 ± 0.28; P = 0.0002), average keratometry in Diopters (40.67 ± 0.44 and 42.83 ± 0.44; P < 0.0001), anterior chamber depth (ACD) in mm (2.92 ± 0.07 and 3.65 ± 0.07; P < 0.0001), and intraocular pressure (IOP) in mmHg (25.2 ± 2.0 and 14.1 ± 2.3; P = 0.0003). Secondary glaucoma was observed in 28% of the MPS cohort. The anterior segment morphometry in the cloudy cornea due to MPS provides an objective measurement of anterior segment architectural changes, thus diagnosing early-onset secondary glaucoma. These findings highlight that cloudy cornea due to MPS variants merits close monitoring throughout life.

The aim was to report cumulative incidence and time of onset of postoperative glaucoma in a paediatric early cataract surgery cohort. Data were retrieved from the Pediatric Cataract Register (PECARE), a prospective register of Swedish cataract operations before 8 years of age. All eyes with surgery between January 2007 and December 2014 and a registered follow-up were included. Cataracts caused by uveitis, trauma or coexisting congenital glaucoma were excluded. Glaucoma was defined as early onset if diagnosed within a year after surgery and late onset if diagnosed later. The study included 288 eyes in 207 children (106 girls), 81 with bilateral and 126 with unilateral cataracts, with a mean follow-up of 3.31 ± 1.77 years. Of the 288, 168 (58.3%) had surgery before 3 months of age; most of these 92.3% (155/168) were defined as dense, 208 (72.2%) were below 1 year of age. Cumulative incidence of surgically treated glaucoma among individuals was 23.7% (49/207). Median time to glaucoma onset was 0.91 years (range: 0.05-4.97 years) for eyes. Early-onset glaucoma was found in 98 % (63/64), and late onset in 2% (1/64). In this paediatric cataract cohort, a majority of eyes had surgery before 3 months of age (58.3%). Secondary glaucoma-onset peaked within the first postoperative year, with a cumulative incidence of 23.7%. Surgery performed after the first month of life, resulted in a lower glaucoma rate. Long-term follow-up will reveal whether the low rate of late-onset glaucoma with early surgery will last, and if so, the consequences.

Glaucoma is a neurodegenerative disease with elevated intraocular pressure as one of the major risk factors. Glaucoma leads to irreversible loss of vision and its progression involves optic nerve head cupping, axonal degeneration, retinal ganglion cell (RGC) loss, and visual field defects. Despite its high global prevalence, glaucoma still remains a major neurodegenerative disease. Introduction of mouse models of experimental glaucoma has become integral to glaucoma research due to well-studied genetics as well as ease of manipulations. Many established inherent and inducible mouse models of glaucoma are used to study the molecular and physiological progression of the disease. One such model of spontaneous mutation is the nee model, which is caused by mutation of the Sh3pxd2b gene. In both humans and mice, mutations disrupting function of the SH3PXD2B adaptor protein cause a developmental syndrome including secondary congenital glaucoma. The purpose of this study was to characterize the early onset nee glaucoma phenotype on the C57BL/6J background and to evaluate the pattern of RGC loss and axonal degeneration in specific RGC subtypes. We found that the B6.Sh3pxd2bnee mutant animals exhibit glaucoma phenotypes of elevated intraocular pressure, RGC loss and axonal degeneration. Moreover, the non-image forming RGCs survived longer than the On-Off direction selective RGCs (DSGC), and the axonal death in these RGCs was independent of their respective RGC subtype. In conclusion, through this study we characterized an experimental model of early onset glaucoma on a C57BL/6J background exhibiting key glaucoma phenotypes. In addition, we describe that RGC death has subtype-specific sensitivities and follows a specific pattern of cell death under glaucomatous conditions.