FOXC1 Duplications Linked to Early-Onset Glaucoma
FOXC1 duplications were the second most common monogenic finding among genetically solved juvenile open-angle glaucoma cases in one registry, supporting the use of copy-number variant analysis in early-onset glaucoma testing.
By
Andrea Surnit
May 27, 2026
Clinical Scorecard: FOXC1 Duplications Linked to Early-Onset Glaucoma
At a Glance
Category Detail
Condition Early-Onset Glaucoma Key Mechanisms FOXC1 duplications associated with variable ocular phenotypes. Target Population Patients with juvenile open-angle glaucoma and related conditions. Care Setting Retrospective cohort study in specialized eye care centers.
Key Highlights
FOXC1 duplications account for 12.3% of genetically diagnosed juvenile open-angle glaucoma cases. Most diagnoses occurred between ages 8 and 40 years. Intraocular pressure at diagnosis ranged from 22 to 53 mmHg. Systemic findings included neurodevelopmental conditions and dental anomalies. Elevated central corneal thickness can lead to overestimation of intraocular pressure. Guideline-Based Recommendations
Diagnosis
Consider copy-number variant analysis for genetic testing in early-onset glaucoma. Management
Patients may require selective laser trabeculoplasty or glaucoma surgery for pressure control. Monitoring & Follow-up
Regular examination for intraocular pressure and ocular phenotype variations. Risks
Potential for missed earlier detection of glaucoma in patients presenting after age 40. Patient & Prescribing Data
20 patients from 10 families with FOXC1 duplications.
Advanced disease noted in 12 patients at most recent examination.
Clinical Best Practices
Incorporate gonioscopy in assessments for accurate diagnosis. Standardize phenotyping across cohorts to improve diagnostic accuracy. Related Resources & Content
