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 they start showing symptoms as infants. Having ARS can affect your child’s vision and lead to other eye issues throughout their life. It’s likely that your child will develop glaucoma at some point if they have ARS.

Your child will need regular eye exams as they grow and develop. Visit a healthcare provider if you notice any new symptoms or changes in your child’s eyes or body.

Symptoms of Axenfeld-Rieger syndrome

Healthcare providers group ARS symptoms based on where they affect your child:

• Ocular symptoms affect your child’s eyes.
• Systemic symptoms happen in other parts of their body, outside their eyes.

Eye symptoms of ARS can include:

• Thin or underdeveloped irises
• Off-centered pupils, which are out of their usual place or have an irregular shape
• Issues with the cornea

Ocular symptoms can affect your child’s vision. But it may be hard for you to notice this when your child is too young to tell you something is wrong. You may notice your baby rubbing or poking at their eyes more often than usual.

Axenfeld-Rieger syndrome will increase your child’s risk of other eye conditions, including:

1. Glaucoma
2. Cataracts
3. Coloboma
4. Macular degeneration
5. Crossed eyes

Systemic ARS symptoms are less common. They may include:

• Skull issues: Your baby’s head may have an unusual shape. They might have wide-set eyes and a flattened face shape. They might have an unusually broad, prominent brow or forehead.
• Tooth problems: 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 near their belly button. Male babies sometimes also develop extra skin on the underside of their penises.
• Narrow urethra or anal openings: These can cause problems with how your child pees and poops.
• Hearing loss: Your baby may be born with reduced hearing. Or they might lose some hearing as they grow.
• Heart defects: Babies with ARS may be more likely to develop heart disease and other heart-related complications
• Pituitary gland issues: This can make it take longer than usual for your baby to grow and develop.

Axenfeld-Rieger syndrome causes

A genetic variation causes Axenfeld-Rieger syndrome. Changes 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. This includes developing 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.

Talk to a healthcare provider about genetic counseling if you’re worried about the chances of passing ARS or other genetic conditions to your biological children.

How doctors diagnose ARS

A healthcare provider will usually diagnose Axenfeld-Rieger syndrome 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. An eye doctor or healthcare provider will diagnose ARS later, when symptoms develop. They’ll perform a full eye exam. Your child might need a few other tests, including:

• A visual acuity test to check their vision
• Gonioscopy to check for glaucoma
• DNA tests and genetic testing to confirm they have the genetic changes that cause Axenfeld-Rieger syndrome

Axenfeld-Rieger syndrome treatments

Your child’s healthcare provider will tell you which treatments your child will need. It will depend on which symptoms your child experiences and their severity. Your provider will suggest treatments to manage specific symptoms as they come up.

There’s a good chance your child will develop glaucoma at some point. Around half of children with ARS do. Glaucoma can cause permanent vision loss if it’s not treated soon enough. Visit an eye doctor right away if your child has glaucoma symptoms, including:

• Eye pain
• Severe headaches
• Vision problems
• Constant tearing or watery eyes
• Squinting all the time or not being able to keep their eyes open in light settings
• Enlarged eyes

Treatments can slow down additional vision loss. But they can’t restore lost vision. The most common treatments include:

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

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 in their eyes

What can I expect if my child has this disorder?

Every case of Axenfeld-Rieger syndrome is different. How much it affects your child depends on where they develop symptoms and if 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.