Cat Eye Syndrome
By: Katherine Petty
What causes Cat Eye Syndrome?
What gene or chromosome is affected by Cat Eye Syndrome?
Cat Eye Syndrome is a rare chromosomal disorder.
- Chromosome 22 is affected.
Are there prenatal tests for this disorder?
What are the symptoms?
Wide Set Eyes
Abnormalities to the eyes, ears, heart, and kidney
Defects of the iris (coloboma)
- Skin tags near the ears
What population is affected?
Boy and girl babies are the majority of the population.
- The disease is already diagnosed before they are born because chromosome number 22 didn’t deliver properly.
Can anyone be a candidate for the disorder?
This disorder is very rare and is inherited from the parent
- It can be inherited if the mother is a carrier
How is it inherited? (Is it sex-linked, recessive, and/or dominant?)
What kind of medical assistance will the affected child need?
None, unless symptoms are severe
- Seeing a doctor or a specialist if necessary
Will further assistance be needed, as the child grows older?
What is the long-term outlook for the child?
Are there any treatments or cures?
Treatment may require the efforts of skilled medical professionals, even seeing an eye specialist.
“Treatment is dependent largely on the phenotype of the patient and the severity of the symptoms”
There are more specific forms of treatment for the exact condition. Examples are Pulmonary venous malformations or Preauricular tags/pits.There are no cures yet, but scientists are working on learning more about Cat Eye Syndrome through examinations and research.
Could this disorder have been prevented?
Can this individual have children in the future? Will those children be affected?
Yes. Cat Eye Syndrome will not affect the patient from having children.
What is the current status of research on this disorder?
Is there a cure/new treatment coming soon?
Scientists are working on developing a cure.
- There are already a handful of treatments, however there is a possibility for new treatment in the future.
Any other information you believe is relevant/included?
If you have Cat Eye Syndrome, both eyes could be differently colored.
- “Statistics from the National Center for Biotechnology Information estimate that cat eye syndrome affects one in every 50,000 to 150,000 live births.”
Behrman, RE. "Cat Eye Syndrome - NORD (National Organization for Rare Disorders)." NORD National Organization for Rare Disorders Cat Eye Syndrome Comments. N.p., n.d. Web. 05 May 2016.
Chen, H. "Diagnosis and Treatment." Cat Eye Syndrome Blog Posts RSS. N.p., 2006. Web. 05 May 2016.
Hyatt-Knorr, Henrietta. "Diseases." Cat Eye Syndrome. N.p., 13 Apr. 2015. Web. 05 May 2016.
Morrison, Patrick J. "The Iris – a Window into the Genetics of Common and Rare Eye Diseases." The Ulster Medical Journal. The Ulster Medical Society, Jan. 2010. Web. 05 May 2016.
Lipson, Stacy. "'Cat Eye Syndrome' Makes Eyes Look Feline." NBC News. N.p., 19 Jan. 2011. Web. 05 May 2016.