Abnormal Eye Movements and Eye Contact in Rett Syndrome: What Families Notice

Unusual eye movements are a lesser-known symptom of Rett syndrome, a genetic neurodevelopmental disorder that mostly affects girls. Some eye movements might look random or erratic, but they can serve as an important way for people with Rett syndrome to communicate.

Eye tracking technology (ETT) includes software designed to track eye movements. ETT can be part of augmentative and alternative communication (AAC), which some people with Rett syndrome use to express themselves. By learning to recognize certain abnormal eye movements, caregivers may better understand a person’s emotions, needs, and preferences, even when ETT isn’t available.

Here’s a brief overview of common eye movements family members may notice in Rett syndrome, why they may happen, and how to track them to share with your healthcare team.

Common Abnormal Eye Movements in Rett Syndrome

Several abnormal eye movements are common in children with Rett syndrome. Some are voluntary, while others happen automatically.

Dodging Eye Contact

Babies may start avoiding eye contact in stage 1 of Rett syndrome, which often starts between 6 and 18 months of age. Reduced eye contact can be an early sign of Rett syndrome. If you notice this, let your child’s pediatrician know.

Intense Staring

Some families notice intense staring at objects. This may start after eye contact returns, often in stage 3. Symptoms of Rett syndrome tend to level off and some communication skills improve during this stage, which commonly starts between ages 3 and 5. The child may regain some control over eye gaze.

As eye control improves, a child may use their gaze to point or communicate. This suggests that the oculomotor system (the eye movement system) works fairly well, even though other parts of the brain can still affect eye movements.

Frequent Blinking

Some children with Rett syndrome blink more often than expected. Research suggests that excessive blinking and facial twitching may be linked to a problem with the brainstem, which controls automatic body functions like reflexes, heart rate, and balance.

Crossed or Misaligned Eyes

Children with Rett syndrome have a higher risk of strabismus (crossed or misaligned eyes). Eyes may turn either inward or outward, though other patterns can occur. Strabismus is more common in people with neurological disorders like Rett syndrome.

Closing One Eye

Some children may close one eye at a time. Like other distinctive eye movements, this behavior often starts in stage 1 or 2.

How Rett Syndrome Affects Eye Movements

Researchers are still studying why unusual eye movements are so common in children with Rett syndrome. In general, Rett syndrome affects brain development, causing the brain to develop more slowly and leading to missed developmental milestones.

Immature Brainstem

Research shows the brainstem is one of the areas most affected by MECP2 gene mutations (changes), which are commonly associated with Rett syndrome. Because the brainstem controls automatic processes like reflexes, an immature or underdeveloped brainstem might contribute to symptoms such as frequent blinking. Some studies also link certain types of strabismus to brainstem dysfunction.

Muscle Dysfunction

Children with Rett syndrome often have challenges with motor skills while losing muscle tone. The oculomotor system that controls the eyes may mostly work as expected, but muscle weakness or stiffness can affect facial expressions. This may make eye movements look more unusual.

Communication Challenges

Some eye movements that seem abnormal to others may be part of how a person communicates. Children with Rett syndrome often lose the ability to speak and may not be able to control their hand movements enough for sign language, so they rely on other forms of communication such as eye tracking to express their needs and preferences.

What To Tell Your Healthcare Team

Caregivers of children with Rett syndrome can help their healthcare providers by noting any unusual eye movements. Keeping a journal of eye-related symptoms and other details may help doctors diagnose Rett syndrome or assess which stage a child may be in. You may want to track:

• What types of unusual eye movements you notice
• When these movements happen
• How long they last (if they’re not constant)
• What seems to trigger them, such as strong emotions or fatigue

Try not to ignore eye movements that seem new or unusual, especially if your child loses skills they previously had. For instance, losing eye contact after months of typical development can be an early sign of Rett syndrome, along with a slowed head growth.

Specialists Who Can Help

Families can turn to their primary care doctor for help connecting with specialists who can help manage Rett syndrome and support communication challenges, including learning to use ETT. Specialists who may be part of a child’s care include:

• Ophthalmologists — These are medical doctors who specialize in eye care, including surgery. They can check vision and may prescribe glasses or other treatments to improve sight.
• Vision therapists — These specialists provide vision therapy, which uses eye exercises and training to improve eye control, coordination, and visual processing. They work with children to strengthen visual skills used in daily activities.
• Speech therapists — These specialists can help people with Rett syndrome use eye movements to communicate after the loss of speech. This may include using ETT to track gaze and select words, phrases, or preferences, which can support more social interaction.

When To Call a Doctor

Families of children with Rett syndrome should contact the child’s pediatrician if they notice new symptoms or major changes in eye movements or eyesight, such as:

• Sudden loss of eye contact
• Eye drifting or crossed eyes
• Changes in alertness
• New or worsening seizures

Talk With Your Doctor

If you’re the parent or caregiver of someone with Rett syndrome, or your child shows signs of Rett syndrome, talk with their doctor if you notice changes in eye movements, eye contact, or vision. A care team with different specialists can evaluate these changes and determine whether treatment may help improve vision. You can also ask the doctor about AAC options to support communication.

Join the Conversation

On MyRettTeam, people share their experiences with Rett syndrome, get advice, and find support from others who understand.

Have you noticed abnormal eye movements in a loved one with Rett syndrome? Let others know in the comments below.