Posterior segment findings in Axenfeld-Rieger syndrome

Adam Jacobson, Brenda L. Bohnsack*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Axenfeld-Rieger syndrome (ARS) is characterized by posterior embryotoxon, Axenfeld anomaly (adherent iris strands to Schwalbe's line), and Rieger anomaly (iris hypoplasia with corectopia or pseudopolycoria). There are a few case reports of optic nerve abnormalities associated with 6p25 deletion syndrome, which is a multigenic region that contains the FOXC1 gene. We present 4 patients with ARS, including 1 with a FOXC1 nonsense mutation, who also have prominent congenital optic nerve abnormalities.[Formula

Original languageEnglish (US)
Pages (from-to)320-322
Number of pages3
JournalJournal of AAPOS
Issue number6
StatePublished - Dec 2022

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology


Dive into the research topics of 'Posterior segment findings in Axenfeld-Rieger syndrome'. Together they form a unique fingerprint.

Cite this