Axenfeld Rieger Syndrome is a condition which causes abnormalities in the front part of the eye, an area known as the anterior segment. About 50% of affected individuals develop glaucoma in late childhood or adolescence, although it can also develop in infancy. Glaucoma is a serious condition that can cause vision loss or blindness due to increases of pressure inside of the eye.
People with Axenfeld-Rieger syndrome may have a thin or poorly developed iris (the colored part of the eye). The pupils may be off centre (corectopia) or the iris may have holes in it which look like multiple pupils (polycoria). Abnormalities of the cornea (the clear front covering of the eye) may also be present.
The genetic mutation which causes Axenfeld-Rieger Syndrome is only known in approximately 40% of cases, and can be traced to disruption of the FOXC1 or PITX2 genes.
While primarily an eye disorder, Axenfeld Rieger Syndrome can also impact other areas of the body.
Some people with Axenfeld-Rieger syndrome have distinct facial features such as widely spaced eyes, a flattened midface with a broad, flat nasal bridge, a thin upper lip, and a prominent forehead.
Associated features differ depending on the genetic cause. People with Axenfeld-Rieger syndrome caused by variants in PITX2 almost always have dental (unusually small, misshapen, or missing teeth) and umbilical (extra skin around the belly button, hernia, or omphalocele) anomalies. Rarer problems include pituitary anomalies, Meckel’s diverticulum, anal anomalies. People with Axenfeld-Rieger syndrome caused by variants in FOXC1 may have isolated eye anomalies or eye and heart, hearing, brain, or hip anomalies.
* The information on this page has been checked and edited for accuracy by Linda Reis (MS, CGC) at the Medical College of Wisconsin.
