Cat Eye Syndrome: Symptoms, Causes, Can it Affect Your Vision, Treatment

Symptoms, causes and treatment of cat eye syndrome

Cat eye syndrome: Symptoms, causes & treatment

Cat eye syndrome (CES) is explained as a rare chromosomal disorder that might be noticeable at birth. Many different parts of the body are affected by CES. The signs and symptoms of the condition vary extensively but may include abnormalities of the eyes, ears, anal region, heart, and kidney. For people who are affected by the cat-eye syndrome, each cell has at least one small extra (duplicate) chromosome made up of genetic material from chromosome 22. This extra genetic material causes the characteristic signs and symptoms of the condition. In maximum cases, cat eye syndrome occurred without any family history. 

The term “cat eye syndrome” has been derived from a peculiar eye abnormality present in a little over half of the affected individuals. This disorder, also known as the coloboma, generally appears as a cleft or gap in the iris under the pupil, and an elongated pupil, therefore, looks like a cat’s eye. But there are other characteristics too that are associated with CES that involves many organs and systems. These symptoms are a consequence of the abnormal development during embryo and fetal stages. 

The symptoms associated with this disease may vary from one individual to another, including members of the same family. 

 

Symptoms of cat eye syndrome

Cat-eye syndrome affects the formation of specific parts of a baby’s body before he is born. The syndrome varies highly and according to an estimation, only 41% of CES patients have the following classic triad of symptoms – ocular coloboma, anal atresia, and the minor ear defect preauricular skin tags or pits. Signs and symptoms may include:

  • Cleft lip or palate
  • Iris coloboma
  • Unusually shaped ears
  • Skin tags or pits may appear in front of the eye
  • Opening to the anus is missing (anal atresia)
  • Crossed eyes
  • A downward slant to the corners of the eyes
  • Conductive hearing loss
  • Widely spaced eyes (Hypertelorism)
  • Congenital heart defects
  • Problems associated with urinary tract
  • Small holes, or pits, in front of the ears
  • A curved spine (scoliosis), fused vertebrae, missing ribs, or dislocated hips
  • Vision problems
  • Difficulty hearing
  • Delayed development
  • Mild to moderate intellectual disability

 

Causes cat eye syndrome

Cat-eye syndrome is generally caused by an abnormality of the chromosome known as inverted duplicate 22. In people who are suffering from this disorder, each cell has at least one small extra or duplicate chromosome that is made up of genetic material from chromosome 22. This extra genetic material results in the characteristic signs and symptoms that are peculiar to the cat-eye syndrome.

Chromosomes can be understood as structures that contain information related to our genes. They exist in the nucleus of our cells. Humans carry 23 paired chromosomes. Each one consist of:

  1. “P” – a short arm
  2. “Q” – a long arm
  3. Centromere: where the two arms connect

Generally, people carry two copies of chromosome 22, each with a short-arm known as 22p and a long-arm called 22q. People how have CES carry two extra copies of the short arm and a small region of the long arm of chromosome 22. This leads to developmental abnormalities during the embryo and fetal stages. The particular cause of cat eye syndrome is unknown. The extra chromosome appears randomly when an error occurs when the reproductive cells divide. And these are not definitely not inherited from a parent.

In such cases, the parents carry normal chromosomes. Cat-eye syndrome is evident in just 1 out of every 50,000 to 150,000 live births, according to estimates of the National Organisation for Rare Disorders. But there are few inherited cases of cat eye syndrome apparently. In case you have this disorder, there are high chances that you may be able to transfer the extra chromosome and, therefore, the disorder to your children.

 

Diagnosis of cat eye syndrome

A doctor may be the one who first notices the birth defect that could suggest cat eye syndrome before the birth or a baby with an ultrasound test. An ultrasound produces an image of the features with the help of sound waves. It might expose some specific characteristics of the cat-eye syndrome. 

In case the doctor is successful in observing these features with the help of an ultrasound. Then the doctor might advise follow-up testing, like amniocentesis. During amniocentesis, the doctor collects a sample of the amniotic fluid to examine it.

The doctor may be able to diagnose cat eye syndrome by the presence of chromosomal material from chromosome 22q11. Genetic testing can be considered a way to confirm the diagnosis. This test may include:

  • Karyotyping: Karotyping produces an image of a person’s chromosomes.
  • Fluorescence in situ hybridization (fish): it is able to identify and locate a particular DNA sequence on a chromosome. 

In case cat eye syndrome is confirmed then the doctor will be running various additional tests to detect any other abnormalities that may exist, such as heart or kidney defects. These additional tests may include:

  • X-ray and imaging tests
  • Hearing tests
  • Echocardiography
  • Cognitive function tests
  • Electrocardiography (EKG)
  • Eye examination

 

Treating cat eye syndrome

A treatment course/plan for CES will be depending on the individual’s symptoms. It may be needing a team of:

  • Pediatricians
  • Orthopedists
  • Surgeons
  • Gastrointestinal specialists
  • Heart surgeons (cardiologists)
  • Eye specialists

 

Outlook for people with cat eye syndrome

Life expectancy varies widely for people who suffer from this disorder. The severity of the condition plays a major role in this, especially in case there are heart or kidney issues. 

In a few cases, people will cat eye syndrome can have severe malformations in early infancy, which can result in a much shorter life expectancy. However, in most cases, life expectancy in people isn’t reduced due to cat-eye syndrome. 

 

 

The best way to treat your eyes is to visit your eye care professional and get your eyes checked regularly. He will be able to assess the best method of treatment for your eye ailment.

Visit our website Eyemantra.

To book an appointment call +91-8851044355. Or mail us at [email protected].

Our other services include Retina SurgerySpecs RemovalCataract Surgery, and many more.

Make An Appointment

Free Tele-Consultation

Book Appointment or Video Consultation online with top eye doctors