Cat Eye Syndrome

The symptoms and treatments.

What Causes the Disorder?

This rare mutation is recessive to normal eyes and caused by unnatural duplicated material on the long arm of Chromosome 22. This extra material form multiple copies of the arm, break off, and make marker chromosomes.

How Do People Get this Disorder?

This disorder develops randomly in about every 150,000th person, anyone can fall to this mutation. When the disorder is first introduced to a family it is not sex-linked, it is a mutation that occurs before birth and progresses as the child grows. But once it occurs in a subject, that person can have children and pass it onto to them. If a parent has the disorder and has a child, there is a 50% chance of the child inheriting it. Once the parent has a child with the disorder, none of there other children he or she has will inherit it. This will continue through the rest of the family's generations. There are also no prenatal tests that can be preformed.

What are the Common Symptoms?

Treatments and Cures

Cat Eye Syndrome will not continue to develop after the victim has reached age three to four. The child won't need medical assistance to survive through childhood. There are no known cures for this disorder, and research on this mutation has stopped. The mutation usually leaves the victims without 20/20 vision and sometimes colorblindness. The only treatment is for doctors to prescribe eye ware that allows them to see in 20/20. The disorder will stay with the victim for the rest of his or her life and glasses will always be needed.


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  • Henry, John. "Diagnosis and Treatment." Cat Eye Syndrome Blog Posts RSS. PFOND, 28 Aug. 2012. Web. 30 Apr. 2015.
  • Brands, Alex. "Re: Is Cat Eye Syndrome Recessive." Re: Is Cat Eye Syndrome Recessive. MadSci Network, 13 Jan. 2013. Web. 30 Apr. 2015.
  • Hothmen, Michelle. "Cat Eye Syndrome." Rare Diseases. NORD, n.d. Web. 30 Apr. 2015.