Cat eye is a syndrome related to a birth defect some people might experience due to chromosomal abnormalities. Namely, cat eye syndrome takes place due to abnormalities in the chromosome 22, which is the second smallest chromosome in our whole body. In ideal conditions, we are supposed to have 2 copies of these chromosomes in our body. Having 3 or 4 of these results in the development of the cat eye syndrome. This syndrome usually goes hand-in-hand with a slight mental retardation and organ problems, along with specific physical deformations, mainly regarding the eyes of individuals. The eyes of the people with the cat eye syndrome resemble those of a cat, due to a specific look of the pupils and some other deformations and abnormalities regarding the iris. Finally some other eye deformations may take place, and the syndrome may affect both eyes at once.
Manifestations of Cat Eye Syndrome
Apart from the above mentioned eye iris, retina and pupil deformations, along with the mental retardation, there are often quite noticeable anomalies regarding the eye opening between the eyelids. Namely, it too can be cat-like. Moreover, eyes can be widely positioned one from another and one's face and skull can be affected too. Additionally, a missing kidney, or kidney problems in general, along with the missing or malformed anus can all be clear signs of the cat eye syndrome. Heart problems add on to the list, as well as hernia, ear deformations and shortness in growth.
Diagnosis and Treatment
Even though this syndrome is quite obvious due to its many distinctive features, still, once a child is suspected to have inherited this chromosomal anomaly from one or both of its parents, genetic tests are performed for confirmation. Then, after noticing any genetic deformities, the cat eye syndrome is confirmed and, thus, diagnosed.
Treatment may involve taking care of any physical problems. Mainly, this involves surgeries to solve the heart, anus or other problems related to this syndrome. Additionally, some correctional surgeries can be made for modifying any other defects which can cause health problems in the future. If shortness takes place, people with cat eye syndrome are given growth hormones through a special therapy. However, not much can be done, taking into consideration that this is an inborn state of affairs, caused by genetic factors. Even though extremely rare, once noticed in certain families, this syndrome is known to appear in future generations, being transferred genetically.