Cat-eye syndrome: What should you know about it?


Published on September 29, 2021, 11:11 am

Cat-eye syndrome: What should you know about it?

How bold does cat-eye makeup look? For some women, it’s their signature look. You can find millions of cat-eye makeup tutorials on YouTube (yes I was shocked too) or maybe you’re already a pro at it.

But, did you know that some people have cat’s eyes for real? I’m not saying that they have permanent makeup on. They actually have eyes that resemble a cat’s eyes. It’s a rare genetic disorder that occurs in 1 out of every 50,000 to 150,000 infants as estimated by the National Organisation For Rare Disorders.

This problem may or may not affect your eyes which is why prescription glasses aren’t always prescribed to treat this condition. But if you’re a parent, this guide will allow you to know about this problem in a little more detail so you can seek immediate medical attention for your child if they have CES.

What is cat eye syndrome?

Cat-eye syndrome (CES) also called Schmid-Fraccaro syndrome is a rare condition that’s present at birth.

This genetic disorder gets its name from the appearance of the eyes in people who have this condition. People with the cat-eye syndrome have a genetic defect called coloboma which leads to elongated pupils that resemble a cat's eye.

Not only your eyes but the deformity can be reflected in other parts of your body such as your ears, heart, skin and more.

Causes of the cat-eye syndrome

According to the National Organisation For Rare Disorders, the exact reason why a person develops this condition is not known.

But, experts believe that this problem has something to do with the abnormalities in a person’s chromosome. This may arise as a result of an error that occurs when the reproductive cells divide

Chromosomes are thread-like structures that are made up of genetic material. When a part of one chromosome breaks off and attaches to another chromosome, it takes away the genetic information as well. This is called translocation. If this trade is balanced meaning that an even amount of genetic material is exchanged, it is generally harmless to the person.

Although it’s rare, those with balanced translocations have a slight risk of passing the chromosomal abnormality to their children. But there are also some inherited cases of CES implying that this condition could be passed on from parents to their newborn babies.


Model Caitin Stickels

image source - BBC

Symptoms of the at-eye syndrome vary from person to person. Famous Seattle model Caitin Stickles also have cat-eye syndrome due to a chromosomal abnormality that disfigured her face as you can see in the picture above.

This condition usually affects the following parts of your body:

  • Eyes
  • Ears
  • Heart
  • Kidneys
  • Reproductive organs

Where some people only develop a few minor symptoms, some have symptoms that are so mild that it becomes almost impossible to diagnose the condition.

However, it is found that people with CES have these three symptoms in common:

  • Preauricular tags or growth of extra skin on the external ears
  • Tiny holes on the outer part of the ear
  • Absence of the anal atresia

As per National Organisation For Rare Disorders (NORD), 41% of patients with CES have this triad of symptoms.

Other signs of this problem also include:

  • Absence of the iris coloboma (the coloured tissue of the eye)
  • Congenital heart defects
  • Downward openings or the corners of the eyes
  • Defect in the urinary tract
  • Delay in eye development
  • Wide space between the eyes
  • Misalignment of the eyes
  • Ears having an abnormal shape
  • Short stature
  • Skeletal abnormalities
  • Cleft lip/palate

Children with CES often experience learning and developmental delays, problems with speech and behaviour issues. They may also have short stature with less than average height.

Diagnosis of the cat-eye syndrome

People with CES were born with it. A doctor is able to detect CES even before the baby is born with the help of an ultrasound test. It uses sound waves to get an image of the fetus and any abnormality such as CES could be reflected in this test.

If your doctor detects characteristics of CES, they may take a follow-up test such as amniocentesis which involves taking a sample of the amniotic fluid.

There are several genetic testing methods to detect the presence of CES such as:

  • Karyotyping: It shows an image of the patient’s chromosomes.
  • Fluorescence in situ hybridization (FISH): It involves marking of the chromosomes with a fluorescent dye so the doctor can locate a specific DNA material in the chromosome.

Once it’s confirmed that you have CES, your doctor will run other tests to detect any abnormality in the kidney or heart. These tests may involve:

  • Eye examination
  • Hearing tests
  • Imaging tests
  • X-rays
  • Electrocardiography
  • Echocardiography
  • Cognitive function test

Treatment for cat-eye syndrome

The treatment for CES depends on the symptoms you or your child have. But it’s also important to know that CES cannot be reversed as it’s caused due to a permanent change in a person’s chromosome. However, the symptoms can be treated.

Because the symptoms of CES show up on different parts of the body, the treatment will involve a set of medical experts which will include:

  • Surgeons
  • Eye specialists
  • Paediatrician
  • Heart specialists
  • Gastrointestinal specialists
  • Orthopedists

Cat-eye syndrome affects different people in different ways. The ideal treatment will be based on the severity of your symptoms.

Does cat-eye syndrome affect vision?

If iris coloboma (defect or hole of the iris), then you might develop vision problems. Thus, it’s important for you to take regular eye exams as you’re at a higher risk of acquiring refractive errors which makes your vision blurry.

So, make sure to get your eyes checked regularly. You can get a free eye test from us and save your money. An eye exam will help to determine whether you need corrective lenses to see clearly.

People with iris coloboma also experience light sensitivity which will require them to use prescription sunglasses or tinted glasses in bright light environments.

Also, an eye exam will help the doctor to check the inside of an eye and make sure that everything is going well there. It avoids the risk of future vision problems and prevents your eyesight from degrading further.

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