Axenfeld-Rieger Syndrome: The Genetic Condition That Changes How a Baby's Eyes Develop — and Why Glaucoma Follows More Than Half of Kids With It
Updated: 2 days ago
Medically reviewed by Dr. Baraa Alnahhal, MD. Last reviewed October 13, 2026. This content is for educational purposes and is not medical advice.
Quick Answer
Axenfeld-Rieger syndrome (ARS) is a rare genetic condition that changes how a child's body develops, especially the eyes and sometimes the teeth. Signs include thin irises and off-centered pupils. More than half of children with ARS develop glaucoma, which can cause permanent vision loss if not treated quickly. Management includes regular eye exams, eye drops, laser treatment or surgery.
What the research says
ARS is a group of developmental disorders that often lead to glaucoma. A clinical review describes ARS as a clinically and genetically heterogeneous group of disorders affecting mainly the front of the eye (the anterior segment), often leading to secondary glaucoma. It is inherited in an autosomal-dominant fashion, and mutations in PITX2 or FOXC1 underlie about 40% of cases, so a negative gene test does not rule ARS out. Systemic features can include dental defects, mild craniofacial differences, and umbilical anomalies (Seifi and Walter, Clinical Genetics, 2018).
The affected gene shapes which body-wide features to expect. In the largest ARS cohort reported to date, 128 people with disease-causing variants in the two known genes were studied (81 of them new cases). Eye findings overlapped, but systemic features, such as dental, heart, hearing, and brain-imaging differences, varied with the gene involved. The authors concluded that families should receive a gene-specific diagnosis, and they proposed gene-specific management plans (Reis et al., Journal of Medical Genetics, 2023).
What Is Axenfeld-Rieger Syndrome?
Axenfeld-Rieger syndrome (ARS) is a rare genetic condition that affects how your child's body develops, especially their eyes. It can also affect their teeth and other parts of their body, but this is less common.
Healthcare providers usually diagnose ARS when a baby is born, or when symptoms start to show in infancy. Having ARS can affect your child's vision and lead to other eye issues throughout their life. One fact stands above all others: it's likely your child will develop glaucoma at some point. More than half of babies born with ARS do. Glaucoma is a condition where pressure builds up inside the eye and can damage the optic nerve, leading to permanent vision loss.
Because the risk is ongoing, your child will need regular eye exams as they grow and develop. And you should see a healthcare provider as soon as you notice any new symptoms or changes in your child's eyes or body.
What Are the Symptoms of Axenfeld-Rieger Syndrome?
Healthcare providers group ARS symptoms based on where they affect your child. Ocular symptoms affect the eyes. Systemic symptoms happen in other parts of the body, outside the eyes.
Eye symptoms of ARS can include thin or underdeveloped irises (the colored ring of the eye), off-centered pupils that sit out of their usual place or have an irregular shape, and issues with the cornea (the clear front layer of the eye). Ocular symptoms can affect your child's vision, but it may be hard to notice this when your child is too young to tell you something is wrong. One behavioral clue: your baby may rub or poke at their eyes more often than usual.
Eye symptom | What it looks like |
Thin or underdeveloped iris | The colored ring of the eye looks thin or not fully formed |
Off-centered pupils | Pupils sit out of their usual place or have an irregular shape |
Cornea issues | Problems with the clear front layer of the eye |
Behavioral clue | Baby rubs or pokes at their eyes more often than usual |
ARS also raises your child's risk of several other eye conditions:
Increased risk | Description |
Glaucoma | Pressure buildup inside the eye that can damage vision permanently |
Cataracts | Clouding of the eye's lens |
Coloboma | A gap in part of the eye's structures |
Macular degeneration | Damage to the central part of the retina |
Crossed eyes (strabismus) | Eyes that point in different directions |
Systemic symptoms are less common. They may include unusual skull or face features (an unusual head shape, wide-set eyes, a flattened face shape, or an unusually broad, prominent brow or forehead), tooth problems (unusually small teeth or missing teeth), extra skin folds near the belly button (male babies may also develop extra skin on the underside of the penis), narrow urethra or anal openings that cause problems with urination and bowel movements, hearing loss (present at birth or developing as they grow), heart defects, and pituitary gland issues that slow growth and development.
Systemic symptom | What it means |
Skull or face features | Unusual head shape, wide-set eyes, flattened face, broad or prominent brow or forehead |
Tooth problems | Unusually small teeth. Sometimes missing teeth. |
Extra skin | Extra folds near the belly button. In male babies, extra skin on the underside of the penis. |
Narrow urethra or anal openings | Problems with urination and bowel movements |
Hearing loss | Reduced hearing at birth or hearing loss as the child grows |
Heart defects | Higher chance of heart disease and heart-related complications |
Pituitary gland issues | Growth and development take longer than usual |
What Causes Axenfeld-Rieger Syndrome?
A genetic variation causes Axenfeld-Rieger syndrome. Changes in the FOXC1 and PITX2 genes most commonly cause it. These two genes normally help control how a baby develops while still an embryo, including the development of their eyes.
ARS passes through biological families in an autosomal dominant pattern. That means if one birth parent has a changed gene that can cause ARS, there's a 50% chance their biological children will be born with it. If you're worried about the chances of passing ARS or other genetic conditions to your biological children, talk to a healthcare provider about genetic counseling.
Cause fact | Detail |
Gene changes involved | FOXC1 and PITX2, the genes that help control embryo development, including the eyes |
Inheritance pattern | Autosomal dominant |
Chance of passing it on | 50% per biological child if one birth parent carries the changed gene |
When it's usually diagnosed | At birth or in early infancy, when symptoms appear |
How Do Doctors Diagnose Axenfeld-Rieger Syndrome?
A healthcare provider will usually diagnose ARS when your baby is born. Providers should be able to see issues in your child's eyes when they examine them right after birth. Your child might not have symptoms when they're born. In that case, an eye doctor or healthcare provider will diagnose ARS later, when symptoms develop, by performing a full eye exam. Your child might also need a few additional tests:
Test | What it checks |
Full eye exam | A complete look at the eye's structures |
Visual acuity test | Checks how well your child can see |
Gonioscopy | Checks for glaucoma by examining the eye's drainage angle |
DNA or genetic testing | Confirms the genetic changes that cause ARS |
How Is Axenfeld-Rieger Syndrome Treated?
Your child's healthcare provider will decide which treatments your child needs. It depends on which symptoms your child experiences and their severity. The provider suggests treatments to manage specific symptoms as they come up.
The central concern is glaucoma. Glaucoma can cause permanent vision loss if it isn't treated soon enough. Visit an eye doctor right away if your child shows glaucoma symptoms:
Glaucoma warning sign | What it looks like |
Eye pain | The child seems in pain around the eyes |
Severe headaches | Headaches that are intense |
Vision problems | Changes in how the child sees |
Constant tearing | Watery eyes all the time |
Squinting | Squinting all the time, or unable to keep eyes open in light |
Enlarged eyes | Eyes that look unusually large |
Treatments can slow down additional vision loss, but they can't restore vision that's already lost. The most common treatments include medicated eye drops, laser treatments to drain extra fluid from your child's eyes, and surgery to relieve pressure inside the eyes.
What's the Outlook for a Child With ARS?
Every case of Axenfeld-Rieger syndrome is different. How much it affects your child depends on where they develop symptoms and whether they experience complications like glaucoma. Talk to your provider or eye doctor about what to watch for as your child grows and develops. The sooner you get any new symptoms examined, the better.
When Should I See My Healthcare Provider?
See a healthcare provider as soon as you notice any changes in your child's eyes or vision. Go to the emergency room if your child has any of the following symptoms:
Sudden vision loss.
Severe eye pain.
New flashes or floaters.
What Questions Should I Ask My Doctor?
Good questions to ask a doctor about Axenfeld-Rieger syndrome cover symptoms to watch for, how often your child needs eye exams, glaucoma signs and treatment, and genetic counseling.
Which symptoms should I watch for as my child grows?
How often should my child have eye exams?
What are the signs of glaucoma I should act on?
Should our family see a genetic counselor?
What treatments are available if my child develops glaucoma?
Conclusion and next steps
Axenfeld-Rieger syndrome is a rare genetic condition, but its most dangerous consequence is well known and manageable when caught early: glaucoma. More than half of children with ARS develop it, and untreated glaucoma causes permanent vision loss, vision that treatments cannot restore. That's why the pattern matters so much: notice the signs (thin or underdeveloped irises, off-center pupils, cornea issues, frequent eye rubbing), keep the regular eye exams, know the glaucoma warning signs, and act immediately on the emergencies: sudden vision loss, severe eye pain, or new flashes or floaters. With a clear follow-up plan and quick treatment, you give your child the best possible chance of keeping their vision.
Take action: Talk to your child's healthcare provider about regular eye exams and genetic counseling.
Frequently asked questions
What is Axenfeld-Rieger syndrome? ARS is a rare genetic condition that affects how a child's body develops, especially the eyes. It can also affect the teeth and other body parts, though less commonly [1].
Is Axenfeld-Rieger syndrome genetic? Yes. It's caused by changes in the FOXC1 and PITX2 genes, which normally help control how a baby develops as an embryo, including eye development [1] [6].
How is ARS passed through families? It follows an autosomal dominant pattern. If one birth parent has a changed gene that can cause ARS, there's a 50% chance each biological child will be born with it [1].
When is ARS usually diagnosed? Usually at birth or in early infancy, when providers can see issues in the child's eyes during an exam. Some children aren't diagnosed until symptoms develop later [1].
What are the eye symptoms of ARS? Thin or underdeveloped irises, off-centered or irregularly shaped pupils, and cornea issues. Babies may also rub or poke at their eyes more often than usual [1].
How common is glaucoma in children with ARS? More than half of children with ARS develop glaucoma at some point [1].
Why is glaucoma so serious in ARS? Glaucoma can cause permanent vision loss if it isn't treated soon enough, and treatments can slow further vision loss but cannot restore vision that's already lost [1].
What are the signs of glaucoma I should watch for? Eye pain, severe headaches, vision problems, constant tearing or watery eyes, constant squinting or inability to keep the eyes open in light, and enlarged eyes [1].
What other eye conditions does ARS raise the risk of? Cataracts, coloboma, macular degeneration, and crossed eyes (strabismus), in addition to glaucoma [1].
What are the non-eye (systemic) symptoms of ARS? They may include unusual head shape or facial features, unusually small or missing teeth, extra skin folds near the belly button, narrow urethra or anal openings, hearing loss, heart defects, and pituitary gland issues that slow growth [1] [7].
How is ARS diagnosed? Usually by a full eye exam at birth or when symptoms develop. Additional tests may include a visual acuity test, gonioscopy to check for glaucoma, and DNA or genetic testing to confirm the gene changes [1].
Can ARS be cured? There is no cure. Treatments manage symptoms as they come up. The most common glaucoma treatments are medicated eye drops, laser treatments to drain extra fluid, and surgery to relieve pressure [1].
Can treatment restore vision lost to glaucoma? No. Treatments can slow down additional vision loss but cannot restore vision that has already been lost, which is why early treatment matters [1].
When should I go to the emergency room? If your child has sudden vision loss, severe eye pain, or new flashes or floaters in their eyes [1].
Should I see a genetic counselor if ARS runs in my family? Yes. Talk to a healthcare provider about genetic counseling if you're worried about passing ARS or other genetic conditions to your biological children [1].
Related Reading
Glaucoma: The Silent Threat to Vision, and How Early Treatment Can Protect Your Sight: the condition more than half of children with ARS will develop.
Cataracts: Symptoms, Causes, Diagnosis and Treatment — What You Need to Know: one of the eye conditions ARS raises the risk for.
Trusted External Resources
Cleveland Clinic. Axenfeld-Rieger Syndrome. Cleveland Clinic. Last updated November 26, 2025. https://my.clevelandclinic.org/health/diseases/24093-axenfeld-rieger-syndrome
Schultz SK, et al. Axenfeld Rieger Syndrome. EyeWiki. Accessed October 30, 2026. https://eyewiki.org/Axenfeld_Rieger_Syndrome
National Library of Medicine. Axenfeld-Rieger syndrome. MedlinePlus Genetics. Last updated November 1, 2019. https://medlineplus.gov/genetics/condition/axenfeld-rieger-syndrome/
National Organization for Rare Disorders. Axenfeld-Rieger Syndrome. National Organization for Rare Disorders. Last updated April 8, 2008. https://rarediseases.org/rare-diseases/rieger-syndrome/
References
Cleveland Clinic. Axenfeld-Rieger Syndrome. Cleveland Clinic. Last updated November 26, 2025. https://my.clevelandclinic.org/health/diseases/24093-axenfeld-rieger-syndrome
Schultz SK, et al. Axenfeld Rieger Syndrome. EyeWiki. Accessed October 30, 2026. https://eyewiki.org/Axenfeld_Rieger_Syndrome
National Library of Medicine. Axenfeld-Rieger syndrome. MedlinePlus Genetics. Last updated November 1, 2019. https://medlineplus.gov/genetics/condition/axenfeld-rieger-syndrome/
National Organization for Rare Disorders. Axenfeld-Rieger Syndrome. National Organization for Rare Disorders. Last updated April 8, 2008. https://rarediseases.org/rare-diseases/rieger-syndrome/
Tripathy K, et al. Axenfeld-Rieger Syndrome. In: StatPearls [Internet]. StatPearls Publishing. Last updated February 12, 2024. PMID 30860739. https://www.ncbi.nlm.nih.gov/books/NBK538504/
Seifi M, et al. Axenfeld-Rieger syndrome. Clin Genet. 2018;93(6):1123-1130. PMID 28972279. https://doi.org/10.1111/cge.13148
Reis LM, et al. Axenfeld-Rieger syndrome: more than meets the eye. J Med Genet. 2023;60(4):368-379. PMID 35882526. https://doi.org/10.1136/jmg-2022-108646
Medical disclaimer
This article is for general informational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician, eye doctor, or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay seeking it because of something you have read here. If your child experiences sudden vision loss, severe eye pain, or new flashes or floaters, seek emergency medical care immediately.
Comments