Axenfeld-Rieger Syndrome

What is Axenfeld-Rieger syndrome?

Axenfeld-Rieger syndrome is a rare genetic disorder that affects babies as they grow and develop. It usually affects their eyes. It’s less common, but Axenfeld-Rieger syndrome can also cause developmental symptoms in other parts of babies’ bodies, too. An older name for Axenfeld-Rieger syndrome is Axenfeld anomaly.

Healthcare providers usually diagnose Axenfeld-Rieger syndrome in babies when they’re born or in infants when they start developing symptoms. A mutation in your child’s genes — a change in a sequence of their DNA — causes Axenfeld-Rieger syndrome.

Depending on how Axenfeld-Rieger syndrome affects your child’s eyes, it can affect their vision and eventually lead to other issues in their eyes later in life. It usually affects both of your child’s eyes. More than half of babies born with Axenfeld-Rieger syndrome develop glaucoma at some point in their lives.

Which treatments your child will need depends on what kind of symptoms Axenfeld-Rieger syndrome causes and how severe they are. They’ll need regular eye exams as they get older to monitor changes in their eyes. Your eye care specialist or healthcare provider will tell you how often your child will need their eyes checked.

What is the difference between Axenfeld-Rieger syndrome and aniridia?

Axenfeld-Rieger syndrome and aniridia are both congenital conditions (something you’re born with) that affect babies’ eyes.

Aniridia is the medical term for being born without an iris (the colored part of your eye). Some babies who have aniridia don't have irises, while others only have part of an iris.

Axenfeld-Rieger syndrome usually causes symptoms in a child’s eyes, but it may not exclusively affect their irises. It most commonly causes issues in the front of the eye (the anterior chamber). It can also cause symptoms in other parts of your child’s body as they grow and develop.

Diagnosis for both conditions usually occurs when a baby is born. Visit your eye care specialist if you notice any changes in your baby’s eyes or vision.

How common is Axenfeld-Rieger syndrome?

Axenfeld-Rieger syndrome is rare. It affects 1 in every 200,000 babies each year.

What are the symptoms of Axenfeld-Rieger syndrome?

There are two groups of Axenfeld-Rieger symptoms:

• Ocular symptoms. Symptoms that affect your child’s eyes.
• Systemic symptoms. Symptoms that develop in other parts of your child’s body.

Axenfeld-Rieger syndrome ocular symptoms

Ocular symptoms of Axenfeld-Rieger syndrome include:

• Thin or underdeveloped irises.
• Off-centered pupils (the black center of your eye), or pupils that are out of their usual place.
• Issues with the cornea (the clear part at the front of your eye).

Axenfeld-Rieger syndrome will make your child more likely to develop other eye conditions, including:

• Glaucoma.
• Cataracts.
• Coloboma.
• Macular degeneration.
• Strabismus (crossed eyes).

Axenfeld-Rieger syndrome systemic symptoms

Systemic symptoms of Axenfeld-Rieger syndrome are less common than ocular symptoms. If your child has systemic symptoms, they might include:

• Issues with their skull. Hypertelorism (wide-set eyes) and a flattened face shape. Axenfeld-Rieger syndrome can also cause babies to have an unusually broad, prominent brow or forehead.
• Dental symptoms. Babies with Axenfeld-Rieger syndrome are sometimes born with unusually small teeth. They might be missing some teeth too.
• Extra skin. Your child might develop extra folds of skin on their abdomen near their belly button. Babies assigned male at birth sometimes also develop extra skin on the underside of their penis.
• Narrow urethra or anal openings.
• Heart defects.
• Issues with their pituitary gland. Babies born with Axenfeld-Rieger syndrome can sometimes have delayed growth (they take longer to start growing and developing than most children).

What causes Axenfeld-Rieger syndrome?

Axenfeld-Rieger syndrome is a genetic disorder. That means biological parents pass it to their children. Providers may refer to it as a congenital condition. Mutations in the FOXC1 and PITX2 genes most commonly cause it. Usually, these two genes help control how a baby develops when it’s still an embryo, including developing their eyes.

Axenfeld-Rieger syndrome is an autosomal dominant genetic disorder. That means only one copy of the genetic mutation needs to pass from one of a baby’s biological parents to their child for the child to inherit it. This doesn’t mean that if you carry the specific mutation in your genes that your baby will absolutely have Axenfeld-Rieger syndrome. However, there’s a 50% chance they will. Talk to your provider about genetic counseling and the risk of passing any mutations to your children.

How is Axenfeld-Rieger syndrome diagnosed?

Your provider or ophthalmologist will diagnose your child with Axenfeld-Rieger syndrome. Diagnosis usually occurs at birth if your child has obvious issues with their eyes or other parts of their body. Diagnosis may also occur after your child develops symptoms.

Your ophthalmologist will perform an eye exam to look at your child’s eyes (including inside them). They might perform a few tests to diagnose Axenfeld-Rieger syndrome, including:

• A visual acuity test to see if your child’s vision is affected.
• Gonioscopy to check for glaucoma.
• DNA tests and genetic testing to confirm if your child has the mutations that cause Axenfeld-Rieger syndrome.

How is Axenfeld-Rieger syndrome treated?

Axenfeld-Rieger syndrome treatment depends on where your child has symptoms and what (if any) issues their symptoms cause. Talk to your provider or ophthalmologist about which treatments your child will need and how often they need follow-up exams to monitor changes in their eyes and body.

Treating glaucoma caused by Axenfeld-Rieger syndrome

Because it’s so common for kids with Axenfeld-Rieger syndrome to develop glaucoma, your child will probably need treatment for it at some point.

Glaucoma is a general term healthcare providers use to describe a group of eye disorders that damage the optic nerve. Without prompt treatment, glaucoma can cause permanent blindness. In most cases, fluid builds up in the front part of the eye. The extra fluid puts pressure on the eye, gradually damaging the optic nerve. Providers refer to this pressure as intraocular pressure (IOP), or eye pressure.

The most common treatments for glaucoma include:

• Medicated eye drops.
• Laser treatments to drain fluid from your child’s eyes.
• Surgery to relieve pressure.

Treating glaucoma can slow down additional vision loss. However, it can’t restore lost vision. It’s important to see your eye care specialist right away if your child has glaucoma symptoms, including:

• Eye pain.
• Severe headaches.
• Vision problems.

How can I prevent Axenfeld-Rieger syndrome?

You can’t prevent your child from developing Axenfeld-Rieger syndrome if they’ve inherited the genetic mutation that causes it. Talk to your provider if you’re worried about the risk of your children inheriting genetic disorders.

What can I expect if my child has Axenfeld-Rieger syndrome?

Every case of Axenfeld-Rieger syndrome is different. How much it’ll affect your child throughout their life depends on where they have symptoms and which issues they cause. Talk to your provider or eye care specialist 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 your 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:

• A sudden loss of vision.
• Severe eye pain.
• They see new flashes or floaters in their eyes.

What questions should I ask my doctor?

• Will my child need DNA testing to confirm Axenfeld-Rieger syndrome?
• Where will they develop symptoms?
• Which treatments will they need?
• Which changes in their eyes or body should I watch out for?

A note from Cleveland Clinic

Axenfeld-Rieger syndrome is a rare genetic disorder that can affect your baby’s eyes. It also might cause symptoms in other places in their body. Depending on your child’s symptoms, you might only need to make sure their eyes or vision aren’t changing. However, there’s a good chance your child will develop glaucoma at some point in their life. Visit your eye care specialist right away if your child’s eyes hurt or their vision is getting worse.

Talk to your provider if you’re worried about passing the genetic mutations that cause Axenfeld-Rieger syndrome to your children. They might recommend genetic counseling to help you understand your risks.