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
4 min

MDSpire News

Overview

A study identified FOXC1 duplications in patients with early-onset glaucoma, particularly juvenile open-angle glaucoma. These duplications accounted for 12.3% of genetically diagnosed cases across two cohorts, highlighting their significance in genetic testing strategies.

Background

Understanding the genetic basis of early-onset glaucoma is crucial for diagnosis and management. FOXC1 duplications represent a significant genetic factor in juvenile open-angle glaucoma, which can lead to advanced disease if not detected early. This study emphasizes the need for comprehensive genetic testing in patients presenting with glaucoma symptoms at a young age.

Data Highlights

Cohort	FOXC1 Duplications (% of JOAG cases)
Australian & New Zealand	13.5%
Massachusetts Eye and Ear	9.5%
Combined	12.3%

Key Findings

All patients with FOXC1 duplications had glaucoma.
Seventeen patients were diagnosed with juvenile open-angle glaucoma.
FOXC1 duplications accounted for 12.3% of genetically diagnosed juvenile open-angle glaucoma cases.
Intraocular pressure at diagnosis ranged from 22 to 53 mmHg.
More than half of patients lacked overt anterior segment dysgenesis features.
Systemic findings included neurodevelopmental conditions and psychiatric diagnoses.

Clinical Implications

Clinicians should consider FOXC1 duplications in the genetic evaluation of patients with early-onset glaucoma. Early identification may facilitate timely intervention and management strategies to prevent disease progression.

Conclusion

The findings underscore the importance of incorporating copy-number variant analysis in genetic testing for early-onset glaucoma, potentially leading to improved patient outcomes.