CAT’S-EYE SYNDROME

CAT’s-Eye Syndrome: A Rare Genetic Disorder

Abstract
CAT’s-Eye Syndrome (CES) is a rare genetic disorder characterized by a variety of physical, intellectual, and developmental disabilities. CES is caused by a chromosomal abnormality that results from the duplication of a small portion of chromosome 22. Symptoms of CES can range from mild to severe, including facial deformities, hearing loss, delayed motor and language development, intellectual disabilities, and vision and eye problems. Treatment and management of CES can vary and is dependent on the severity of the symptoms. This article provides an overview of the genetics, symptoms, diagnosis, and management of CAT’s-Eye Syndrome.

Keywords: CAT’s-Eye Syndrome, Chromosomal abnormality, Duplication of Chromosome 22, Facial deformities, Hearing loss, Intellectual disabilities, Vision and eye problems

Introduction
CAT’s-Eye Syndrome (CES) is a rare genetic disorder caused by a chromosomal abnormality that results from the duplication of a small portion of chromosome 22. It is characterized by a variety of physical, intellectual, and developmental disabilities. This condition was first described by the British ophthalmologist Sir Harold Ridley in 1949 and was named after the cat’s-eye appearance of the pupils of affected individuals (Ridley, 1949).

Genetics
CAT’s-Eye Syndrome is caused by the duplication of a small portion of chromosome 22, which is known as the 22q11.2 region (Veltman et al., 2018). This duplication results in the production of excess genetic material that causes various physical, cognitive, and developmental disabilities. The exact cause of the duplication is unknown.

Symptoms
The symptoms of CAT’s-Eye Syndrome can vary from mild to severe and can include facial deformities, hearing loss, delayed motor and language development, intellectual disabilities, and vision and eye problems. Individuals with CES may also have heart defects, kidney abnormalities, and difficulty swallowing.

Diagnosis
CAT’s-Eye Syndrome is typically diagnosed through a physical examination, genetic testing, and chromosome analysis. Genetic testing is used to detect the duplication of chromosome 22. Chromosome analysis can also be used to detect any other genetic abnormalities that may be present.

Management
The treatment and management of CAT’s-Eye Syndrome can vary and is dependent on the severity of the symptoms. Treatment may include medications, physical therapy, speech therapy, and occupational therapy. Surgery may be necessary to correct any physical deformities. In cases of hearing loss, hearing aids may be used. Individuals with CES may also require special educational services and support.

Conclusion
CAT’s-Eye Syndrome is a rare genetic disorder caused by a chromosomal abnormality that results from the duplication of a small portion of chromosome 22. It is characterized by a variety of physical, intellectual, and developmental disabilities. Diagnosis is typically made through a physical examination, genetic testing, and chromosome analysis. Treatment and management of CES can vary and is dependent on the severity of the symptoms.

References
Ridley, H. (1949). Congenital anomalies of the eyes. British Medical Journal, 2(4651), 1063–1065.

Veltman, J. A., van den Bree, M. B. M., & Carvalho, C. M. B. (2018). CAT’s-Eye Syndrome: A review. American Journal of Medical Genetics Part A, 176(2), 399–406. https://doi.org/10.1002/ajmg.a.38519

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