Cat Eye Syndrome

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. Cat eye syndrome is caused due to the presence of these extra chromosomes.

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. Malformation may be distinctly noticed in the iris, retina or any other tissues of the eye. This syndrome also changes the appearance 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 of Cat Eye Syndrome

Symptoms associated with cat eye syndrome vary in severity and range. Individuals may experience any one, or a combination of, the following symptoms. Some people may show 1 or 2 manifestations that are not visible to the naked eye. Individuals may be marginally affected or may have multiple malformations as mentioned below:

• 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 for Cat Eye Syndrome

As cat eye syndrome is an inherited genetic disorder, it occurs by birth. 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 is used to check for genetic defects in chromosomes.

Treatment for Cat Eye Syndrome

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 cat eye syndrome 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.