Cat Eye Syndrome

Cat Eye Syndrome (CES) is a rare genetic disorder caused by a chromosomal abnormality involving chromosome 22. It derives its name from the characteristic vertical, slit-like appearance of the pupil in some affected individuals, resembling a cat’s eye, although this is not present in all cases.

Symptoms

Symptoms vary widely, but common features include:

1. Ocular abnormalities:
   • Coloboma (a defect in the eye structure, potentially affecting vision).
   • Cat-like appearance of the eye’s pupil (slit-like).
2. Facial and skull abnormalities:
   • Downslanting eyes, wide-spaced eyes, or malformed ears.
   • Cleft palate or other craniofacial differences.
3. Heart defects:
   • Congenital heart defects such as tetralogy of Fallot or septal defects.
4. Kidney and urogenital malformations:
   • Absence of one kidney or other renal abnormalities.
5. Skeletal abnormalities:
   • Short stature or other skeletal issues like scoliosis.
6. Developmental and intellectual delays:
   • Developmental delays, mild intellectual disabilities, and sometimes behavioral issues.
7. Anal atresia:
   • A birth defect where the anus is absent or malformed.

Causes

CES is usually caused by the presence of an extra small chromosome formed by duplicated material from chromosome 22. This can result in a partial trisomy, meaning there is extra genetic material from chromosome 22, which leads to the symptoms. The condition may arise sporadically or be inherited, though most cases occur without a family history.

Treatment

There is no cure for Cat Eye Syndrome, and treatment focuses on managing symptoms and improving the quality of life. This often involves:

• Surgical intervention for heart defects, anal atresia, or cleft palate.
• Vision correction for ocular defects such as colobomas.
• Speech therapy, physical therapy, or occupational therapy to aid development.
• Regular monitoring for kidney function, heart health, and growth.

Prevention

As CES is a genetic condition, there is no known way to prevent it. However, genetic counseling may be beneficial for families with a history of CES or those at risk. Prenatal testing can sometimes detect CES if the chromosomal abnormality is identified early.