Living with Axenfeld-Rieger syndrome
An inherited eye condition that affects the front of the eye and can also affect the face, teeth, and other body parts.
Understanding Axenfeld-Rieger syndrome
The iris may be thin or poorly formed, and the pupil can be off-center or there can be extra holes that look like more than one pupil. About half of people develop glaucoma, which raises pressure in the eye and can cause vision loss. Other features can include widely spaced eyes, a flat mid-face, and small or missing teeth. Signs are seen in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Thin or poorly formed iris
- Glaucoma (high eye pressure)
- Flat mid-face
- Hearing loss
- Heart differences
- Posterior embryotoxon (ring at the cornea's edge)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include digestive system specialists, eye disease specialists, genetic specialists and hormone specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Axenfeld-Rieger Foundation and Pituitary Network Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Expert lists: Axenfeld-Rieger Foundation, Pituitary Network Association
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Axenfeld-Rieger Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in genes (also called variants) cause this condition. It is autosomal dominant, so a change in one copy of a gene can cause it.
Also known as: anomaly, rieger's; ars; axenfeld syndrome; axenfeldt-rieger syndrome; rgs - rieger syndrome; rieger syndrome
Patient organizations
- Axenfeld-Rieger FoundationAxenfeld-Rieger syndrome · United States
- Pituitary Network AssociationPituitary deficiencies · United States
You are more than your diagnosis
Perspectives from people navigating life with Axenfeld-Rieger syndrome.
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