Syndrome Cat Eye: Have You Ever Heard Her Talk?

You know the syndrome of the cat’s eye, a rare disease that can achieve the pupil of the eye. Learn what are the symptoms and causes of this problem. Take care of yourself.

Contrary to the name, the syndrome, the cat eye has nothing to do with cats and is a disease that is very rare also known as Trisomy 22, since it is related to chromosome 22.

This genetic abnormality has features widely variable, including problems on the epidermis with various organs, or even problems of cognitive deficit. However, and in spite of all these features, it displays a main feature is very special: a peculiar form of the eyes by the bearers. The eye these patients presents an iris very clear, once the middle layer of the eye is virtually non-existent, appearing as the eye of a cat, hence the name syndrome of the cat’s eye. This phenomenon is called coloboma of the iris.

In spite of this characteristic in the eye, the vision is almost always maintained, and may appear many other problems and symptoms that we’ll see next.


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This syndrome occurs when an individual inherits genetic material in chromosome 22 from a parent, which is typically from the father.

It turns out that the majority of cases, arises from a genetic mutation spontaneously in the genome of the patient, in the first three months of pregnancy.

For being a spontaneous mutation there is a family history of the disease, being very rare the cases in which it can be transmitted from father to son. But as the patients may have signs very discrete, can live my whole life without knowing that they have this disease.


The symptoms of this disease vary greatly because they can be related with the eye of the patient or with the different organs affected, and the person might have several of the following signs or just one or two. As happens during pregnancy, it may also happen that the baby is born with development problems in various parts of the body.

In relation to the characteristics associated with the eye:

  • Occlusion congenital of coloboma that affects the iris: it could be a difference of tone or even a failure in the iris;
  • Eyes very closely spaced to each other;
  • Corners of the eyes fallen;
  • Cracks in the eyelids;
  • Strabismus;
  • Sensitivity to brightness;
  • Possible blindness.

When the eyes do not show visible differences, we can find other characteristics according to the organs affected:

  • Heart problems;
  • Bowel problems, especially in the anus (atrésia anal);
  • Kidney problems and urinary;
  • Jaundice;
  • Low in stature;
  • Escolioses or hernias;
  • Dislocation of the hips;
  • Mental retardation, and that can be a mild or more intense;
  • Jaws atrophied;
  • Ears with format atypical;
  • Deafness.

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Once the syndrome, the cat eye is extremely rare, about 7 cases in each 74000 births, it is not always easy to make the diagnosis. However, it is mostly done at the stage neonatal (shortly after birth) or in early childhood.

This is done by the physician, who must accompany the patient and get to know him, to recognize certain signs and symptoms and be able to take the correct measures to confirm the diagnosis.

Genetic testing is the next step. Only this analysis can give the certainty of the diagnosis, since the only criterion 100% reliable is the presence of chromosome 22 is defective. Can be done through a biopsy of the bone marrow, or, sometimes, a blood test is enough.

It is important to emphasize that when there is suspicion of the syndrome is the cat eye in a pregnancy, the doctor may request analysis more specific, such as an amniocentesis or biopsy of chorionic villi cariónicas (BVC). In the latter case, after collection of the tissues must proceed in the same the genetic analysis.


Knowing that the syndrome of the cat’s eye is a genetic disease, chromosome changes, we can easily conclude that there is a cure. As causes changes in different organs, the treatment is directed to the signs presented by the patient and may help to reduce some of the symptoms and improve the quality of life of the person.

In relation to coloboma, treatment is only necessary when causes vision difficulties or other uncomfortable symptoms for the patient. Otherwise, the patient only needs to have queries of ophthalmology routine every 6 months up to 10 years in order to maintain an evaluation of the development of the eye.

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However, in some cases it may be necessary to:

  • Use contact lenses colored, allowing you to hide the pupil damaged;
  • Use of sunglasses , or putting filters on the windows, which decreases the amount of light in cases in which there is a high photosensitivity;
  • Aesthetic surgery, allowing to reconstruct definitely the injured party.

However, this syndrome has many of the other symptoms that may not be associated with eye problems. For this reason, it may be necessary to resort to surgery for some of the other problems, such as atrésia anal, changes to heart, kidney or even problems such as hernias and escolioses.

The physiotherapy and occupational therapy are also important approaches in case there is some delay in motor development and speech therapy to the changes of language and speech. Already the delay cognitive may require an intervention different, more specialized in health and education.