Cat-eye syndrome is a unique disease induced by a chromosomal alteration. Its symptoms are very different, from an ocular insufficiency to a mental disability. We describe it to you.
Cat’s eye syndrome is a genetic disease that is acknowledged as an uncommon disease due to its low prevalence. It is also named the Schmid-Fraccaro syndrome since these scientists were the first to explain it.
Its familiar name is since people who undergo from it have a very specific eye shape. This disorder is normally diagnosed at birth. But beyond the eyes, the fact is that the deficiencies and symptoms that it can create are very different.
Some people can have a very severe affectation, as well as others who only exhibit mild symptoms. In this article, we reveal everything you need to understand about cat eye syndrome and what its implications are.
What is cat eye syndrome?
Cat’s eye syndrome, Orphanet reveals, is an uncommon disease. This is because its predominance is low, below 1 in every 150,000 newborns, affecting men and women both.
Its primary cause is an abnormality in a chromosome. Chromosomes are compositions that carry genetic information. Usually, humans have 23 pairs of chromosomes. All of them are made up of two arms: a short one, called the p- arm, and a long one, called the q- arm.
What appears in cat-eye syndrome is that these victims have two short arms on the alike chromosome 22. That is, it is as if there is a small extra chromosome 22. This is what triggers a range of developmental abnormalities. It is not recognized precisely why this happens. What is identified is that it is not normally inherited.
The parts of the body that are most affected by this disease are the heart, eyes, ears, kidneys, and anal region. Though, as we looked out at the beginning, gravity is extremely variable.
The unique sign is an abnormality called a coloboma. It consists of a ragged pupil or a second pupil appearing in the iris. That is why it is termed ‘cat-eye syndrome’.
What symptoms does it present?
As we have seen, the signs and severity of cat eye syndrome are complex. According to the Genetic and Rare Diseases Information Center, only 41% of people have a classic unification of abnormalities.
This classic combination which they suggest includes kidney disorders, the coloboma of the iris, and those in the area of the ears. They are normally ears that are lower than normal and that have a fold just in front.
The kidneys tend to be small, and in some circumstances, they may be in a fallacious place. Some patients even have only one of the kidneys, which can influence the quality of life. This is described in an article published in the Spanish Association of Pediatrics.
It is also essential to note that, about the perianal area, the atresia of the anus may develop. It is a defect that consists in that the anus is not perforated. That is, there is no connection between the rectum and the surface because the skin is intact.
Coloboma is present in more than 50% of cases. Moreover, these people may have eyes that are wider than normal or small. In principle, eyesight need not be affected, although it can lead to cataracts.
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Other symptoms of cat eye syndrome
People with cat eye syndrome are normally short. Bone tissues lead to be abnormal and, in some circumstances, some bones do not even develop. For example, the radius, which is a section of the forearm.
Mental disability is frequent but moderate. That is, they are people who need supervision both in education and at work. Despite this, through therapies, they can perform some autonomy.
The heart can also be affected. According to a study carried out at the University of Antioquia, it is expected that there are cardiac distortions such as determining ductus or interatrial communication. Other symptoms that may appear are the following:
- Decreased muscle tone
- Genital abnormalities, such as abnormal contact with the urinary bladder. In women, there may also be an absence of the uterus.
- There may be biliary atresia or intestinal malrotation. Malrotation is a section of the intestine that is in a different place than normal. Atresia causes bile unable to pass from the gallbladder to the intestine.
- Some have a very small jaw or lowered lip.
- Hearing decreases.
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Diagnosis of cat eye syndrome
The diagnosis of cat eye syndrome is made at childbirth and even earlier. Fetal diagnostic methods have developed remarkably. Thanks to them, the risk of the fetus experiencing a chromosomal abnormality can be calculated.
If it is not diagnosed throughout pregnancy, this syndrome becomes apparent at birth. As we have described, the appearance is normally characteristic. Mainly the shape of the ears and eyes.
To validate the diagnosis, two parallel tests can frequently be performed. One of them is the karyotype. It allows you to examine the number, size, and shape of chromosomes. With it, the presence of an alteration of chromosome 22 is evidenced.
The other test is fluorescent in situ hybridization (FISH). It is a complicated procedure that makes it potential to discover a specific DNA sequence on a chromosome. This is how you see the particular defect.
In addition to the baseline diagnosis, people with cat eye syndrome usually need many other tests to check which organs are influenced. The electrocardiogram and echocardiogram are vital, as well as x-rays.
Cat-eye syndrome treatment?
The truth is that there is no special treatment for the cat-eye syndrome. Despite this, most people who own it have a great prognosis. This depends on the hardness of the disease, but many of the defects can be improved thanks to current therapeutic opportunities.
What we must identify is that this syndrome, beyond generating characteristic eyes, can affect several other parts of the body. It is a chromosomal defect that produces alterations in appearance, in the digestive system, and at the mental level. Therefore, its appearance does not depend on a particular specialty.