Cat Eye Syndrome

Cat eye syndrome is a genetic disorder occurring in 1 in 74000 births. The disorder is named due to the feline appearance of the eyes .This defect may occur in one eye or in both the eyes. 


Symptoms of Cat eye syndrome: 


Symptoms appearing in 41 per cent of people afflicted with Cat eye syndrome are :

  1. The tissue in the coloured part of the eye is absent.

  2. There are small skin growths in the outer ears.

  3. The anus is obstructed or absent.

Secondary symptoms are;

  1. Downward slanting eyes

  2. Renal defects

  3. Short height

  4. Cleft palate

  5. Heart defects

  6. Moderate to severe mental retardation

  7. Underdeveloped lower jaw

  8. Hernias

Diagnosis and cause

  1. Cat eye syndrome is confirmed by presence of the listed symptoms.

  2. Cat eye syndrome is genetic in origin and is caused in cases where the long and short arm of chromosome 22 is present three to four times instead of two times, as is the case in a normal individual.

  3. There is no specific cause of Cat eye syndrome which has been isolated since the gene defect is spontaneous in origin.

Treatment for Cat Eye Syndrome


There is no standard course of treatment for Cat eye syndrome and the treatment changes from case to case. 


The birth defects in the anus and heart take precedence over other treatments. This syndrome is not life threatening except in cases where the heart and renal defects are severe.


In cases of moderate severity, the following course of treatment may be followed:

  1. Stool softeners and petroleum jelly may be recommended to be used to make the passage of stools easy.

  2. A diet which is rich in fibre may be prescribed to add bulk and make passage of stools easy.

  3. Depending upon the patient’s tolerance level, vitamin C may be prescribed to raise resistance levels

  4. Synthetic growth hormones may be injected in regulated doses to rectify the shortened stature. 

  5. Omega 3 doses may be prescribed to reduce risk of coronary disease.

  6. The ophthalmologist in charge of the case will often prescribe eye vitamins to correct problems caused by deformation in the iris.

  7. Glasses may be prescribed to sharpen the vision- this will help parts of the eye that are unaffected.

  8. Current studies indicate that there is no shortened life expectancy in people affected with Cat eye syndrome but without other life threatening physical problems.

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