Previously unreported pathogenic variant in FOXC1 causing Axenfeld-Rieger syndrome with significant ocular anterior segment dysgenesis.
Thomas Kromann Nøhr, Dorte Ancher Larsen, Magnus Stougaard et al.
✦ AI-curated · Sources linked
Case in brief
A patient presented with Axenfeld-Rieger syndrome, exhibiting significant ocular anterior segment dysgenesis. Genetic testing revealed heterozygosity for a previously unreported pathogenic variant in the FOXC1 gene. This case adds to the understanding of the genetic and phenotypic spectrum of ARS, highlighting the importance of genetic counseling for affected individuals.
Diagnostic / clinical pearl
Clinicians should consider the possibility of unreported pathogenic variants in FOXC1 when diagnosing Axenfeld-Rieger syndrome, as this can influence management and genetic counseling.
Why it matters
This case underscores the variability in genetic presentations of Axenfeld-Rieger syndrome, emphasizing the need for comprehensive genetic evaluation in patients with ocular dysgenesis.