Cat eye syndrome is a chromosomal disorder inherited at birth and hence is present in newborns. As a result the child is born with various disorders that may include partial absence of iris or retina, widely spaced eyes and mental retardation.
Cat eye syndrome is a genetic disorder in which there is a malformation of the chromosome 22. Our body consists of billions of tiny cells, and each cell has an organized structure of protein and DNA. These structures found in the cells are called chromosomes. Chromosome 22 is the second smallest chromosome found in humans. Generally, people have 2 copies of chromosomes 22. However, in cat eye syndrome, there are 3 to 4 copies of the chromosome 22, which can cause a wide range of health problems.
Cat eye syndrome is a chromosomal abnormality, which results in the disorder being present at birth. In most cases, it can be easily detected even before birth. The baby is born with common anomalies that include mildly impaired intelligence and other disorders of the heart and kidneys. This syndrome also changes the appearance of the eye. Malformation may be distinctly noticed in the iris, retina or any other tissues of the eye. The name “cat eye” is given as the malformation of the iris makes it look similar to the pupils of a cat. In this condition, a tissue related to the eye may be partially absent. In some cases, the abnormality may be present in both the eyes, and is known as bilateral cat eye syndrome.
Symptoms
- Partial absence of the tissue (iris, retina) pertaining to the eye
- Mild or moderate mental retardation
- Cat-like, downward slanting opening or incorrect palpebral fissure (the opening for the eyes between the eyelids)
- Malformations of the facial and the skull region
- Eyes are widely spaced
- Absence of an anal opening or a partially formed anus (inability to dispose the body’s solid waste)
- Kidney abnormalities; various renal malformations; only 1 kidney present
- Heart defects
- Hernia
- Short stature
- Unusual or undesirable shape of ears; small growths or depressions of skin visible on the outer ears
- In rare cases, minor malformations may be present in almost every organ
Diagnosis
As cat eye syndrome is an inherited genetic disorder, it is an inborn defect. The defect can arise from either parent, as it can be transmitted through both sexes. The person is diagnosed considering the symptoms present in the body. Genetic testing can also be used to check for genetic defects in chromosomes.
Treatment
Treatment is given according to the symptoms the individual is diagnosed with. Doctors recommend surgery to repair inborn defects in the heart or anus. Patients with short stature are given growth hormone therapy.
A recent study suggests that the chromosomal disorder affects 1 in about 74000 people, making this a pretty rare disorder. This chromosomal disorder can occur in both, males and females. In many cases, individuals are born with this syndrome because it is prevalent in their families.
Disclaimer: The information provided in this article is solely for educating the reader. It is not intended to be a substitute for the advice of a medical expert.
