Axenfeld-Rieger syndrome includes a spectrum of abnormalities of ocular and systemic development, often associated with glaucoma. Linkage analysis has led to the discovery of autosomal dominant mutations in 2 genes, paired-like homeodomain transcription factor 2 (PITX2) and forkhead box C1 (FOXC1). Both genes encode transcription factors that regulate embryonic development.
Excerpted from BCSC 2020-2021 series: Section 10 - Glaucoma. For more information and to purchase the entire series, please visit https://www.aao.org/bcsc.