| Domain | Key points | Quantitative data | Key sources |
|---|---|---|---|
| **Clinical Definition & Onset** | Primary open-angle glaucoma (POAG) subtype presenting in older children and young adults; features open angles and normal anterior segments without congenital anomalies (e.g., Haab's striae or increased corneal diameter). | Typical age of onset defined between 3 and 40 years, or sometimes specified as <35 years. | (pqac-00000001, pqac-00000003, pqac-00000009, pqac-00000024) |
| **Diagnostic Criteria** | CGRN childhood glaucoma criteria require ≥2 findings: elevated IOP, glaucomatous optic nerve (ON) damage, corneal changes, or visual field (VF) defects. Cohort inclusions specify persistent IOP elevation and ON changes with open angles. | IOP ≥21 mmHg (CGRN) or >22 mmHg on 2+ occasions; C/D asymmetry ≥0.2. | (pqac-00000015, pqac-00000024) |
| **Genetic Etiology** | *MYOC* is the primary gene (autosomal dominant, variable penetrance); mutant proteins accumulate and misfold in the endoplasmic reticulum (ER) causing ER stress and trabecular meshwork cell death. *CYP1B1*, *OPTN*, *FOXC1*, and *CPAMD8* variants are also implicated in JOAG/pediatric cohorts. | *MYOC* mutations explain 3.6%–9.5% (Saudi cohort) up to 36% of JOAG cases; >250 *MYOC* variants identified (37.7% pathogenic; 97% in exon 3, e.g., p.Gln368stop, p.Pro370Leu). | (pqac-00000000, pqac-00000003, pqac-00000009, pqac-00000010, pqac-00000023) |
| **Epidemiology** | Rare globally, but comprises a notable fraction of childhood glaucoma cases. Incidence/prevalence varies significantly by region and referral population. | Estimated US incidence: 1 in 50,000; Accounts for ~0.7% of Caucasian glaucoma referrals and up to 15.5%–29.3% of childhood glaucoma cohorts. | (pqac-00000022, pqac-00000027, pqac-00000028) |
| **Clinical Phenotype** | Patients often present with high myopia, significant family history, extremely high IOP, and rapid, severe visual field progression. Often asymptomatic until advanced. | Myopia prevalence ~93%; Family history ~51%; Preoperative mean IOP ~27–30 mmHg (can exceed 50 mmHg); Severe VF defects in 44%–57% of eyes; Mean C/D ratio 0.66–0.73. | (pqac-00000009, pqac-00000021, pqac-00000024, pqac-00000025, pqac-00000026) |
| **Treatment & Outcomes (2024-2025)** | Highly refractory to medications; often requires surgery (e.g., GATT, trabeculectomy, deep sclerectomy). GATT is safe and effective, though complete success declines over a 3-year period. | Mean IOP reduction post-surgery: ~13–17 mmHg (down to ~14–17 mmHg final); Surgical control without reoperation: 76.9%–85.3%; GATT complete success: 73.7% at 1 yr, 51.7% at 3 yrs. | (pqac-00000022, pqac-00000025, pqac-00000026, pqac-00000028) |


*Table: A summary table of recent (2024-2025) and core literature findings on Juvenile Open-Angle Glaucoma (JOAG), detailing diagnostic criteria, genetic etiology, clinical phenotypes, and surgical treatment outcomes.*