Axenfeld-Rieger Syndrome

Excerpt

In 920, the German ophthalmologist Theodor Axenfeld made an important contribution to the field by describing a prominent and anteriorly displaced Schwalbe line (posterior embryotoxon) with the adhesion of peripheral iris strands. Later, these observations became known as the Axenfeld anomaly. Another significant advancement came from the Austrian ophthalmologist Herwigh Rieger, who described a distinct set of ocular abnormalities known as the "Rieger anomaly." This anomaly encompasses posterior embryotoxon, iris hypoplasia, polycoria, and corectopia.

The constellation of systemic findings in conjunction with Rieger anomaly, such as dental abnormalities, facial bone changes, umbilical abnormalities, hypospadias, and pituitary abnormalities, was called Rieger syndrome. In current medical terminology, the terms Axenfeld anomaly, Rieger anomaly, and Rieger syndrome are no longer used. Instead, these ocular findings and associated systemic manifestations are now recognized under a spectrum of disorders called Axenfeld-Riger syndrome (ARS).

ARS is a disease that encompasses anterior segment ocular dysgenesis and systemic abnormalities such as dental, cardiac, craniofacial, and abdominal wall defects. The mutations associated with ARS include PITX2 (chromosome 4q25), FOXC1 (chromosome 6p25), PAX6 (chromosome 11p13), FOXO1A (chromosome 13q14), and CYP1B1 (chromosome 2p22.2).