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    Eye Diseases

    Cat Eye Syndrome — A Human Condition You Must Know About

    Cat Eye Syndrome image

    Cat Eye Syndrome is a unique genetic disease that appears in 1 of every 50,000 to 1,50,000 newborn babies, as estimated by the National Organisation For Rare Disorders (NORD). Such a situation may or may not influence the eyes. That is why doctors do not always specify prescription glasses for curing this disorder. 

    But if you are a parent of such a child, the following article will help you know about cat eye syndrome in detail. That may help in pursuing medical attention in time for your child.

    What Is Cat Eye Syndrome?

    Nowadays, cat-eye makeup is a part of the signature look for every woman. But, do you know that some people have cat eyes naturally? 

    It is due to the disorder in which eyes look identical to the cat eyes. This condition is known as Cat Eye or Schmid-Fraccaro syndrome.

    Apart from the eyes, such a syndrome also affects different parts of the body. That may include the eyes, ears, skin, heart, kidney, and anal region.

    The symptoms or signs of the cat-eye disorder are commonly visible at birth. However, children with mild issues can encounter slight or no signs at birth. 

    And addressing the most severe patients can have a combination of symptoms, a few of which may be life-threatening.

    Now you have understood what cat eye disorder is. So, let us further proceed to know how anyone can be a candidate for cat eye syndrome.

    What Are The Symptoms Of Cat Eye Syndrome?

    The symptoms of cat eye syndrome are quite variable. People with this disease may face problems with the ears, eyes, heart, kidneys, intestinal tract, and reproductive organs.

    In some people, only a few symptoms develop. Others have mild symptoms that never be detected.

    Out of all, the most common cat eye syndrome symptoms include:

    • Ocular Coloboma

    This symptom happens when a crack in the lower part of the eye fails to close during early development. Then, this unclosed gap results in a most severe cleft. That may cause temporary vision defects and blindness.

    • Preauricular Skin Pits or Tags

    Under this defect, small skin pits or tags appear in front of the ears.

    • Anal Atresia

    This condition occurs when the anal canal of a person is missing. To correct this defect, most doctors recommend surgery.

    Most two-fifths of people have these above symptoms. Yet, every patient with a cat eye syndrome is unique.

    The other symptoms of this disease comprise:

    • Eye abnormalities, such as Strabismus (crossed eyes) or having Unilateral Microphthalmia (abnormally small eyeballs).
    • Narrow or small anal opening (anal stenosis).
    • Mild hearing impairment
    • Congenital heart defects and kidney defects include absence, underdevelopment of kidneys, or the presence of extra kidneys.
    • Reproductive defects, such as an underdeveloped uterus, absence of the vagina in females, or undescended testes in the case of males.
    • Mild intellectual disabilities
    • Biliary atresia, in which bile ducts do not develop or develop abnormally.
    • Cleft palate’s a disorder in which the mouth roof has incomplete closure.
    • Children with cat eye syndrome often face comprehension, speech, and behavior problems. They may also have a small stature which is less than average height.
    • Abnormal facial features include downward slanting eyelids, wide-spaced eyes, and a small lower jaw.

    What Causes The Disorder Of Cat Eye Syndrome?

    We all know that chromosomes present in the human cells define the genetic information that a child gets from their parents. 

    Moreover, an average human has 23 chromosomes from the father and 23 from the mother. Each pair of chromosomes has a long arm ‘q’ and a short arm ‘p.’ 

    Cat-eye syndrome causes comprise these things are not in a proper manner, especially chromosome 22.

    In the case of a healthy child, there will be two compositions of chromosome 22, each part possessing a short arm and a long arm.

    But in the case of a child with a cat eye disorder, the short arm and a small part of the long arm have four copies instead of two. 

    What induces the additional compositions to form is still unknown. It is due to the issue that exists in the chromosomes, not in the genes.

    So, it is advised that any newbie parents must visit a genetic advisor to find probable chromosomal abnormality time before birth.

    How Is Cat Eye Syndrome Inherited? 

    In most cases, the cat-eye syndrome is not inherited. The prime cause behind this is such a disorder sometimes occurs during sperm or egg formation. 

    So, it does not matter whether you have a family history of this condition in the past or not. But still, your offspring can have it.

    Further, in some cases, cat eye syndrome occurs from a balanced translocation in any of the parents. It is a situation in which parents have a slight risk of having offspring with a chromosome abnormality. 

    While in others, the parents may have extra chromosomes formed from the genetic material of chromosome 22 in their few or all cells. So, the chances of having this condition are only mildly affected.

    Does Cat Eye Syndrome Affect Vision?

    One kind of cat-eye disorder affects the iris coloboma of the eye. That further might develop vision problems in you.

    Thus, whenever you feel any blurriness and sensitivity to light with this condition, visit an optometrist for conducting eye exams regularly. 

    The regular eye exam will help you in knowing the answers to the following questions:

    • Is cat eye syndrome fatal for your eyes? 
    • What do you need to see things? Whether corrective lenses, prescription, or tinted glasses, surgery serves the purpose.
    • How many chances of occurrence of future vision problems are there?

    How Is Cat Eye Syndrome Diagnosed?

    Diagnosis of cat eye syndrome depends on the existence of symptoms. To confirm its presence, doctors mostly suggest Genetic testing. That may include the following:

    • Karyotype

    It is a test in which a doctor studies the image of chromosomes to confirm the disease.

    • Fluorescence In Situ Hybridization (FISH)

    Under this laboratory technique, a doctor studies specific DNA sequences on a chromosome to know the existence of a fluorescent molecule attached to it. In case of presence, the disease gets confirmed.

    Sometimes cat-eye disorder gets diagnosed in prenatal ultrasound. If any abnormal signs appear in ultrasound, the doctor may order follow-up testing for additional investigation. That may include amniocentesis sampling, in which a doctor analyses a sample of amniotic fluid. 

    Furthermore, the doctor may suggest a few more tests to check the other abnormalities, which are as follows:

    Is There Any Cure For Cat Eye Syndrome?

    Symptoms of this disease vary from person to person so is the treatment. Another thing about this disease is that no permanent cure exists as it is a genetic disease. So that implies the mystery to know is there is a cure coming soon for cat eye syndrome is yet not deciphered.

    However, depending on the symptoms of the affected person, the following treatments can be recommended by most doctors:

    • Medications 
    • Surgery for the correction of anal atresia, genital defects, skeletal abnormalities, hernia, and other issues.
    • Prescription glasses for the slight improvement of eyesight.
    • Physical and Occupational therapy for children having delayed motor disabilities.
    • Counseling for reducing hyperactivity among children.
    • Growth hormone therapy for people having very short stature.
    • The cat eye syndrome treatment also includes a Special education facility for children having intellectual disabilities.


    Cat eye syndrome is an extraordinary chromosomal illness. It gets recognized even before the child is born. But sometimes, it remains undetected. 

    Further, due to this disease, as we said above, various body parts of a person get affected. That, in turn, affects the life expectancy of a person. 

    Still, people must have a general awareness of this disorder. They should know the therapies and treatment procedures to follow for minimizing the effect of individual problems.

    Have questions? Let us know in the comments below. We are willing to help you out.

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