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Axenfeld-Rieger syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Axenfeld-Rieger syndrome

Axenfeld-Rieger syndrome is primarily an eye disorder characterized by abnormalities of the anterior segment, including iris and pupil defects, and an increased risk of glaucoma, though it can also affect other parts of the body with distinctive facial and dental features.

Overview

Axenfeld-Rieger syndrome is primarily an eye disorder, although it can also affect other parts of the body. This condition is characterized by abnormalities of the front part of the eye, an area known as the anterior segment. For example, the colored part of the eye (the iris), may be thin or poorly developed. The iris normally has a single central hole, called the pupil, through which light enters the eye. People with Axenfeld-Rieger syndrome often have a pupil that is off-center (corectopia) or extra holes in the iris that can look like multiple pupils (polycoria). This condition can also cause abnormalities of the cornea, which is the clear front covering of the eye.

About half of affected individuals develop glaucoma, a serious condition that increases pressure inside the eye. When glaucoma occurs with Axenfeld-Rieger syndrome, it most often develops in late childhood or adolescence, although it can occur as early as infancy. Glaucoma can cause vision loss or blindness.

The signs and symptoms of Axenfeld-Rieger syndrome can also affect other parts of the body. Many affected individuals have distinctive facial features such as widely spaced eyes (hypertelorism); a broad nasal bridge with a flat nasal tip; and a prominent forehead. The condition is also associated with dental abnormalities including unusually small teeth (hypodontia) or fewer than normal teeth (oligodontia). Some people with Axenfeld-Rieger syndrome have extra folds of skin around their belly button (redundant periumbilical skin). Other, less common features can include heart defects, the opening of the urethra on the underside of the penis (hypospadias), narrowing of the anus (anal stenosis), and abnormalities of the pituitary gland that can result in slow growth.

Researchers have described at least three types of Axenfeld-Rieger syndrome. The types, which are numbered 1 through 3, are distinguished by their genetic cause.

Frequency

Axenfeld-Rieger syndrome has an estimated prevalence of 1 in 200,000 people.

Causes

Axenfeld-Rieger syndrome results from mutations in at least two known genes, PITX2 and FOXC1. PITX2 gene mutations cause type 1, and FOXC1 gene mutations cause type 3. The gene associated with type 2 is likely located on chromosome 13, but it has not been identified. The proteins produced from the PITX2 and FOXC1 genes are transcription factors, which means they attach (bind) to DNA and help control the activity of other genes. These transcription factors are active before birth in the developing eye and in other parts of the body. They appear to play important roles in embryonic development, particularly in the formation of structures in the anterior segment of the eye.

Mutations in either the PITX2 or FOXC1 gene disrupt the activity of other genes that are needed for normal development. Impaired regulation of these genes leads to problems in the formation of the anterior segment of the eye and other parts of the body. These developmental abnormalities underlie the characteristic features of Axenfeld-Rieger syndrome. Affected individuals with PITX2 gene mutations are more likely than those with FOXC1 gene mutations to have abnormalities affecting parts of the body other than the eye.

Some people with Axenfeld-Rieger syndrome do not have identified mutations in the PITX2 or FOXC1 genes. In these individuals, the cause of the condition is unknown. Other as-yet-unidentified genes may also cause Axenfeld-Rieger syndrome.

Associated Genes

  • FOXC1
  • PITX2

Inheritance

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

Other Names for This Condition

  • ARS
  • Axenfeld and Rieger anomaly
  • Axenfeld anomaly
  • Axenfeld syndrome
  • AXRA
  • AXRS
  • Rieger anomaly
  • Rieger syndrome

Frequently Asked Questions

ny sudden changes in vision, eye pain, redness, or sensitivity to light should be evaluated promptly, as these could indicate developing glaucoma or an acute increase in eye pressure. Regular monitoring by an ophthalmologist, especially one specializing in glaucoma, is essential even without symptoms, given the high risk of developing the condition.
Glaucoma management usually involves eye drops to lower intraocular pressure, and sometimes oral medications or laser procedures. In more severe cases, surgery may be necessary. Early diagnosis and consistent treatment are crucial to preserve vision, as untreated glaucoma can lead to irreversible vision loss or blindness over time.
Beyond eye issues, individuals should be monitored for distinctive facial features like widely spaced eyes, a broad nasal bridge, and a prominent forehead. Dental abnormalities, such as unusually small teeth (hypodontia) or fewer than normal teeth (oligodontia), are also common and may require dental intervention. Regular dental check-ups are important.
Yes, Axenfeld-Rieger syndrome is typically inherited in an autosomal dominant pattern. This means only one copy of the altered gene in each cell is sufficient to cause the disorder. If a parent has the syndrome, there is a 50% chance with each pregnancy that their child will inherit the condition. Genetic counseling is highly recommended for affected individuals and their families to understand inheritance patterns and reproductive options.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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