AXENFELD-RIEGER SYNDROME

Course overview

AXENFELD-RIEGER SYNDROME (ARS) WAS PREVIOUSLY KNOWN AS AXENFELD ANOMALY; THE LATTER TERM WAS USED TO DESCRIBE ONE OF THREE SUBVARIANTS OF THIS SPECTRUM OF DISEASE. ARS IS A DISEASE THAT ENCOMPASSES ANTERIOR SEGMENT OCULAR DYSGENESIS IN ADDITION TO SYSTEMIC ABNORMALITIES SUCH AS DENTAL, CARDIAC, CRANIOFACIAL AND ABDOMINAL WALL DEFECTS. ARS COMMONLY CORRELATES WITH 6P25 DISTAL MICRODELETION. HOWEVER, DIFFERENT PRESENTATIONS OF THIS SYNDROME MAY SHARE LINKS WITH OTHER GENETIC LOCI SUCH AS 4Q25 OR 13Q14. SEVERAL GENES HAVE ASSOCIATIONS WITH ARS, INCLUDING FOXC1, FOXC2, AND FKHL7. THIS ACTIVITY REVIEWS THE PRESENTATION OF AXENFELD-RIEGER SYNDROME AND HIGHLIGHTS THE ROLE OF THE INTERPROFESSIONAL TEAM IN ITS MANAGEMENT.