Ophthalmological Manifestations of Axenfeld-Rieger Syndrome: Current Perspectives

Abstract

Kristi Michels,1 Brenda L Bohnsack2 1Department of Ophthalmology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA; 2Division of Ophthalmology, Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL, USACorrespondence: Brenda L Bohnsack, Email [email protected]: Axenfeld-Rieger syndrome (ARS) is a rare congenital disease that is primarily characterized by ocular anterior segment anomalies but is also associated with craniofacial, dental, cardiac, and neurologic abnormalities. Over half of cases are linked with autosomal dominant mutations in either FOXC1 or PITX2, which reflects the molecular role of these genes in regulating neural crest cell contributions to the eye, face, and heart. Within the eye, ARS is classically defined as the combination of posterior embryotoxon with iris bridging strands (Axenfeld anomaly) and iris hypoplasia causing corectopia and pseudopolycoria (Rieger anomaly). Glaucoma due to iridogoniodysgenesis is the main source of morbidity and is typically diagnosed during infancy or childhood in over half of affected individuals. Angle bypass surgery, such as glaucoma drainage devices and trabeculectomies, is often needed to obtain intraocular pressure control. A multi-disciplinary approach including glaucoma specialists and pediatric ophthalmologists produces optimal outcomes as vision is dependent on many factors including glaucoma, refractive error, amblyopia and strabismus. Further, since ophthalmologists often make the diagnosis, it is important to refer patients with ARS to other specialists including dentistry, cardiology, and neurology.Keywords: Axenfeld-Rieger syndrome, Axenfeld anomaly, Rieger anomaly, glaucoma, posterior embryotoxon, iris hypoplasia

Keywords

• axenfeld-rieger syndrome
• axenfeld anomaly
• rieger anomaly
• glaucoma
• posterior embryotoxon
• iris hypoplasia