Axenfeld Rieger Syndrome: A Genetic Disorder Of The Eyes

The older name for Axenfeld Rieger Syndrome is Axenfeld Anomaly. The name was inherited after the German Ophthalmologist, Theodor Axenfeld, who studied anterior segment disorders, especially those such as Rieger Syndrome and the Axenfeld Anomaly. Axenfeld-Rieger Syndrome is characterised by abnormality of the eyes, teeth, and facial structure.

What is Axenfeld Rieger Syndrome?

Axenfeld-Rieger Syndrome is a rare autosomal dominant disorder, which affects the development of the teeth, eyes, and abdominal region. It is a genetic disorder that usually affects babies’ eyes. It can cause symptoms right after birth or later in life. More than half of the babies born with it develop glaucoma at some point in their lives.

Axenfeld Rieger Anomaly Syndrome is characterised by abnormalities of the front part of the eye, an area known as the anterior segment. For instance- the iris may be thin or poorly developed.

People with Axenfeld Rieger Syndrome eyes often have a pupil that is off-centre (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 front covering of the eye. Axenfeld Rieger Syndrome is rare, 1 among 2,00,000 babies each year.

Axenfeld-Rieger Syndrome is diagnosed by health providers usually after the birth of the babies or at the infant stage when the symptom starts appearing. A mutation in a child’s gene, the sequence of the DNA, can cause Axenfeld Syndrome.

Axenfeld Syndrome affects the vision and leads to various other issues, depending on how Axenfeld Syndrome affects the child’s eyes. The Axenfeld-Rieger Syndrome usually affects both eyes of a child. More than half, of babies born with Axenfeld-Rieger Syndrome, have a high chance to develop glaucoma later in life. Axenfeld Rieger Syndrome and glaucoma are often termed together as the Axenfeld Syndrome often leads to glaucoma.

Causes Of Axenfeld Rieger Syndrome

Axenfeld-Rieger Syndrome is a genetic disorder. It is usually transferred to the children, through their parents. Health experts may refer to this 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 its 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 child’s biological parents to their child to inherit it. This doesn’t mean that if one carries the specific mutation in their genes the child will have Axenfeld-Rieger syndrome. However, there’s a 50% chance they will.

Symptoms of Axenfeld Rieger Anomaly Syndrome

There are two types of Axenfeld Rieger Anomaly Syndrome- Ocular Symptoms and Systemic symptoms.

Ocular Symptoms

There are a few ocular Axenfeld Rieger Syndromes that help us to identify the disease among people. They are as follows-

• Thin or underdeveloped irises.
• Off-centred pupils, or pupils that are out of their usual place.
• Issues with the cornea

Axenfeld Rieger Syndrome will make the child more likely to develop other eye conditions, including:

• Glaucoma
• Cataracts
• Coloboma
• Macular Degeneration
• Strabismus

Systemic Symptoms

Systemic symptoms of Axenfeld-Rieger syndrome are less common than ocular symptoms. If the 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- The 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).

How is Axenfeld Rieger Syndrome diagnosed?

An ophthalmologist will diagnose the child with Axenfeld-Rieger Syndrome. Diagnosis usually occurs at birth if the child has obvious issues with their eyes or other parts of their body. Diagnosis may also occur after the child develops the above symptoms.

An ophthalmologist will perform an eye test to look at the child’s eyes, including the inside of the eyes. They perform a few eye tests to diagnose Axenfeld-Rieger Syndrome.

Remedy For Glaucoma Caused By Axenfeld Rieger Syndrome

Axenfeld-Rieger syndrome treatment depends on where the child has symptoms and what issues are the cause of their symptom. Talk to the ophthalmologist about which treatments the child will need and how often they need follow-up exams to monitor changes in their eyes and body.

It is very common for kids with Axenfeld-Rieger syndrome to develop glaucoma, the 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. Read our blog on glaucoma to know more about the symptoms.

The most common treatments for glaucoma include:

• Medicated eye drops
• Laser treatments drain fluid from the 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 the eye care specialist right away if the child has glaucoma symptoms, including:

• Eye pain
• Severe headaches
• Vision problems

Get your child a free eye test at Specscart and start with the treatment of the Axenfeld Rieger Symptom (if caused) and also as a part of the regular eye checkup.