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

Abstract

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 manifestations.Numerous different variants in FOXC1 and PITX2 have previously been described. Here we present a patient with heterozygosity for a previously unreported pathogenic variant in FOXC1 and a phenotype with significant ocular anterior segment dysgenesis, thereby contributing relevant clinical information about the genetic and phenotypic spectrum of ARS, reproductive considerations and importance of genetic counselling.