To highlight fibrous ingrowth (FI) into the Ahmed Glaucoma Valve (AGV) mechanism as a previously under-recognized cause of late AGV failure. In this prospective interventional case series, 40 eyes of 40 patients with failed AGVs underwent capsulectomy shunt revision (CSR) between September 2022 and October 2024. The cohort included a high proportion of congenital and juvenile glaucoma cases, reflecting the tertiary referral nature of our center. Intraoperatively, the AGV valve mechanism was thoroughly explored, with special attention to identifying growth of fibrous tissue into the valve chamber. After the procedures, patients were stratified into two groups: those with fibrous ingrowth (FI-CSR) and those without abnormal ingrowth (CSR). Pre- and postoperative intraocular pressure (IOP), number of medications, complications and surgical success were reported. Histopathologic evaluation was performed on the excised tissue in the FI-CSR group. FI was identified in 30% (12/40) of all operated eyes. Patients in the FI-CSR group were significantly older (26.3 ± 20.4 versus 16.6 ± 10.2 years old, P = 0.049) and had undergone a larger number of prior surgeries (3.8 ± 1.3 versus 2.1 ± 1.3 procedures, P < 0.001). The prevalence of primary congenital glaucoma (PCG) was also significantly higher in the FI-CSR group as compared to the CSR group (8/12 [66.7%] versus 11/28 [39.3%] cases respectively, P < 0.001). At 12 months after surgical revision, mean IOP decreased from 28.1 ± 6.8 mmHg to 15.1 ± 2.1 mmHg in the FI-CSR group (P < 0.001) and from 28.1 ± 5.9 to 16.9 ± 4.4 mmHg in the CSR group (P < 0.001). Final IOP and surgical success rates at 12 months were comparable between the two groups. No vision-threatening complications were observed during the follow-up period. Histopathologic evaluation of the excised FI tissue revealed dense fibrovascular tissue with chronic inflammation. Fibrous ingrowth into the AGV valve chamber is a significant but often overlooked cause of AGV failure. Surgical excision of FI during CSR was associated with restored device function and improved IOP control with outcomes comparable to conventional CSR. Exploration of the valve mechanism for detection and removal of FI is beneficial during revision procedures in eyes with failed AGVs and could avoid more invasive interventions.

A 5-year-old girl was referred for bilateral iridodonesis. Clinical evaluation revealed an enlarged horizontal corneal diameter, a markedly deep anterior chamber, diffuse iris transillumination, and bilateral posterior subcapsular cataracts. Gonioscopic examination demonstrated angle dysgenesis with posterior embryotoxon. Ultrasound biomicroscopy confirmed the bilateral anterior segment clinical abnormalities. Axial length was within normal limits. Intraocular pressure remained within normal limits, and there was no evidence of juvenile glaucoma. A diagnosis of anterior megalophthalmos was established. Genetic analysis revealed a pathogenic mutation in the CPAMD8 gene, which is known to be associated with anterior segment dysgenesis. This case supports the mutation of CPAMD8 as a genetic contributor to this rare developmental anomaly.

We report the clinical history of two siblings, initially diagnosed with juvenile glaucoma (JG), who were subsequently found to harbor a novel pathogenic OPA1 splicing variant consistent with dominant optic atrophy (DOA). The male proband presented with elevated intraocular pressure (IOP) at age 11, while his sister had normal IOP values at age 16. Both developed bilateral temporal optic nerve pallor, central visual field defects, and reduced color vision. Optical coherence tomography (OCT) confirmed thinning of the retinal nerve fiber and ganglion cell layers. Whole exome sequencing identified a novel splice-site variant in OPA1 (NM_130837.3:c.611-2A>T) in both siblings and their affected mother, classified as pathogenic according to ACMG/AMP guidelines. During treatment washout, the male proband showed elevated IOP, consistent with concomitant JG and DOA, whereas the sister exhibited DOA only. This report highlights the importance of considering DOA in young patients with presumed JG, and suggests potential overlapping pathophysiology involving mitochondrial dysfunction and retinal ganglion cells vulnerability.

Axenfeld-Rieger syndrome/anomaly (ARS) is a rare genetic disorder with an autosomal dominant inheritance pattern, characterized by dysgenesis of the anterior segment of the eye. It may present with systemic anomalies (Axenfeld-Rieger syndrome) or without (Axenfeld anomaly) and may sometimes be associated with multiple congenital malformations. The estimated prevalence ranges from 1 in 50,000 to 1 in 200,000 live births, with an approximate rate of 1 in 100,000, but no epidemiological studies have been conducted to date. A clinical diagnosis of Axenfeld-Rieger syndrome requires the presence of both Axenfeld and Rieger ocular anomalies, accompanied by extraocular systemic features. Ocular manifestations include iris abnormalities, posterior embryotoxon, juvenile-onset glaucoma (a common complication), and dysgenesis of the iridocorneal angle with iridocorneal adhesions. The most commonly observed systemic anomalies include: umbilical defects; craniofacial dysmorphism; dentofacial abnormalities, such as Class III malocclusion due to maxillary hypoplasia, oligodontia, dental malformations (taurodontism, root dysplasia), microdontia, hypodontia, and anodontia; hearing impairment (partial or complete sensorineural hearing loss); and cardiac anomalies, including non-congenital heart disease and mitral valve insufficiency. Additional anomalies may include hypospadias in males, anal stenosis, endocrine disorders (notably growth retardation) secondary to pituitary dysfunction, psychomotor delay, and various neurological malformations such as Dandy-Walker malformation, mega cisterna magna, posterior fossa cysts, cerebellar vermis hypoplasia, ventriculomegaly, aprosencephaly, cerebral atrophy, microcephaly, arteriovenous malformations (AVM), and digital anomalies such as camptodactyly. Diagnosis is typically made in infancy, based on iris anomalies such as corectopia (displacement of the pupil), polycoria (multiple pupils), and iris hypoplasia. Posterior embryotoxon is frequently observed upon slit-lamp examination. Given the clinical variability, a comprehensive pediatric assessment is essential to identify systemic anomalies and distinguish Axenfeld-Rieger syndrome from the isolated Axenfeld anomaly.

To report and present imaging of a case of reversal of optic disc cupping following filtering surgery in juvenile glaucoma. A 22-year-old woman visited our emergency department complaining of blurred vision in her right eye for two weeks associated with bilateral ocular pain. Her medical history included bilateral juvenile glaucoma treated since 2018, occurring in the context of a significant family history of glaucoma. On initial examination, intraocular pressure was 43mmHg in both eyes. Fundus examination showed bilateral optic disc cupping. Humphrey perimetry revealed advanced glaucomatous scotomas surrounding fixation. Filtering surgeries were performed: a deep non-perforating sclerectomy for the right eye followed by a trabeculectomy for the left. Transient hypotony retinopathy occurred in both eyes. Intraocular pressure reduction was followed by a reversal of the optic disc cupping. This morphologic recovery was not associated with improvement in other structural parameters such as retinal nerve fiber layer or ganglion cell complex thickness or perimetric functional indices. This is a rare case of reversal of optic disc cupping in an adult. This case highlights the dynamic sclerolaminar movements involved in the pathogenesis of glaucoma and raises the question of the consequences of these kinetics.