Previously unreported pathogenic variant in FOXC1 causing Axenfeld-Rieger syndrome with significant ocular anterior segment dysgenesis.

Abstract excerpt

Axenfeld-Rieger syndrome (ARS) is a rare genetic disorder characterised by a broad phenotypic spectrum and variable expressivity with characteristic ocular anterior segment dysgenesis, glaucoma and systemic manifestations. ARS is primarily associated with pathogenic variants in FOXC1 and PITX2, which both exhibit autosomal dominant inheritance with overlapping ocular findings but distinct systemic...

Topics

• Humans
• Anterior Eye Segment
• Eye Abnormalities
• Eye Diseases, Hereditary
• Forkhead Transcription Factors
• Homeobox Protein PITX2