Ophthalmological Manifestations of Axenfeld-Rieger Syndrome: Current Perspectives

Abstract

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.

The morphology of angle dysgenesis assessed by ultrasound biomicroscopy and its relationship with glaucoma severity and mutant genes in Axenfeld-Rieger syndrome

“…Previous studies have described the angle features of ARS as the peripheral iris extending toward a prominently and centrally displaced Schwalbe’s line, with the thickness varying from thin to thick. The presence of an anterior iris root insertion, along with a rudimentary Schlemm’s canal, can impair the outflow of aqueous humor and consequently contribute to the onset or progression of glaucoma ( 28 , 29 ). In this study, we considered 6 types of iridocorneal angle morphology of ARS.…”

Axenfeld-Rieger syndrome: A systematic review examining genetic, neurological, and neurovascular associations to inform screening

“…Patients with ARS are diagnosed through a combination of clinical evaluation, routine examinations, and investigations such as genetic testing or imaging studies. Frequently, the ocular manifestations of ARS are the first anomalies detected through routine eye examinations or in patients exhibiting symptoms of corectopia, glaucoma, or iris hypoplasia [ 7 ]. Dental and craniofacial anomalies may be identified in routine dental visits or in the workup of hypodontia or mid-face hypoplasia [ 8 ].…”