A GLIMPSE ON CAT EYE SYNDROME: A VERY RARE DISORDER

A person with cat eye syndrome can be very attractive and can even draw alot of attention because it is a very rare condition, some person's even go to the extent of taking certain pictures and they are left in awe without knowing the truth and hidden facts about CAT EYE SYNDROME.
Cat Eye Syndrome also known as SCHIMID FRACARRO SYNDROME is a rare cogenital abnormality of the chromosome that affects many different parts of the body. The signs and symptoms of this syndrome varies but includes mainly the abnormalities of the eye, ears, anal region, heart or kidney.

This rare chromosomal disorder maybe evident or seen at birth. Individuals with a normal chromosomal make-up have two 22nd chromosomes, both of which have a short arm, known as 22p, and a long arm, known as 22q. However, in individuals with Cat Eye Syndrome, the short arm and a small region of the long arm of chromosome 22 (i.e., 22pter-22q11) are present four times (partial tetrasomy) rather than twice in cells of the body. In a small number of people with CES, the 22q11 region is present in 3 copies (partial trisomy). The name “cat eye syndrome” is derived from a distinctive eye (ocular) abnormality that is present in a little over half affected individuals.
This defect, known as a coloboma, usually appears as a cleft or gap in the iris below the pupil, and the elongated pupil therefore resembles the appearance of a key hole which looks like a cat’s eye. The symptoms of this syndrome results from the abnormal development during the embryonic and fetal stage.
People with cat eye syndrome become nocturnal because they see more during the night because of the occlusion of vision during the day.

SIGNS AND SYMPTOMS
The classic symptoms associated with Cat Eye Syndrome are ocular coloboma, anal atresia and the minor ear defect preauricular skin tags or pits (see below for explanations). However, the syndrome is extremely variable, and it has been estimated that only 41% of patients with Cat Eye Syndrome have this classic triad of symptoms (Berends et al, 2001).
In general the abnormalities associated with Cat Eye Syndrome tend to involve the eyes, ears, anal region, heart, and/or kidneys, but other organs may show involvement and some people show intellectual disability. Below are the following signs associated with this syndrome:

Coloboma (eye defect)
Anal and rectum defects
Preauricular tags or pits (Outer ear defect)
Heart defects
Kidney Defects
Kidney and Genital Defects
Intellectual disability
Skeletal defects
Abdominal
Hirschsprung disease
Biliary atresia
Cleft Palate
Cleft palate or absent uvula
Short stature
Downslanting palpebral fissures (eye abnormality) .
Hypertelorism (wide set eyes)
Microphthalmia (small eye)
Epicanthal folds
Hearing loss

Cat Eye Syndrome may be mild or severe depending on how greatly the individual is affected by it.

DIAGNOSIS
It is possible that a diagnosis of Cat Eye Syndrome may be suspected before birth (prenatally) based upon specialized tests, such as ultrasound, amniocentesis, and/or chorionic villus sampling (CVS). During fetal ultrasonography, reflected sound waves create an image of the developing fetus, potentially revealing certain defects such as a heart defect that might suggest Cat Eye Syndrome.
It can also be diagnosed after birth by a thorough clinical examination detecting a subset of characteristics findings of coloboma, downslanting eyelid folds (palpebral fissures), preauricular tags and/or pits, malformed ears with absence of the external ear canal, anal atresia, heart defects, and renal malformations.

However,Cat eye syndrome should be taken seriously and looked into immediately it is noticed.

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IMAGE SOURCE
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REFERENCE.
National organization for Rare Disorders (www.rarediseases.org).
Comprehensive Opthalmology.