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Cat Eye Syndrome Treatment in Mumbai
Cat Eye Syndrome, also known as Schmid-Fraccaro Syndrome or Trisomy 22, is a rare chromosomal disorder characterised by the presence of an extra chromosome 22 or a portion of it.
This condition can affect various parts of the body, including the eyes, and is often associated with distinctive facial features and other medical issues.
Causes of Cat Eye Syndrome
Cat Eye Syndrome is caused by a chromosomal abnormality, specifically the presence of an extra copy of chromosome 22 or a portion of it (partial trisomy 22). This chromosomal abnormality occurs randomly during the formation of reproductive cells or early embryonic development and is not inherited from parents.
Symptoms of Cat Eye Syndrome
The symptoms of Cat Eye Syndrome can vary in severity and may include:
- Distinctive facial features, such as a broad nasal bridge, widely spaced eyes (hypertelorism), and a small chin
- Eye abnormalities, including colobomas (gaps or clefts in the eye structures), iris abnormalities, and strabismus (crossed eyes)
- Intellectual disability or developmental delays
- Congenital heart defects
- Kidney and urinary tract abnormalities
- Skeletal abnormalities, such as short stature or malformations of the hands and feet
Diagnostic Procedures for Cat Eye Syndrome
To diagnose Cat Eye Syndrome, we typically perform the following diagnostic procedures:
- Detailed medical history and physical examination to identify characteristic features
- Ophthalmological evaluation to assess eye abnormalities
- Genetic testing, such as chromosomal analysis (karyotyping) or fluorescence in situ hybridization (FISH), to confirm the presence of the chromosomal abnormality
Additional tests, such as echocardiograms, kidney function tests, or imaging studies, may be recommended to evaluate associated conditions or organ involvement.
Treatment for Cat Eye Syndrome
There is no specific cure for Cat Eye Syndrome, as it is a genetic condition. However, a multidisciplinary approach is taken to manage the various symptoms and complications associated with the syndrome. Treatment may involve:
- Surgical interventions to address eye abnormalities, such as correcting colobomas or strabismus
- Corrective lenses or low vision aids to improve visual function
- Early intervention programs and special education services for developmental delays or intellectual disabilities
- Cardiac or renal management for associated heart or kidney conditions
- Genetic counseling for families to understand the condition and its implications
Regular follow-up and monitoring by a team of specialists, including ophthalmologists, geneticists, and other healthcare professionals, are essential to provide comprehensive care and support for individuals with Cat Eye Syndrome.
FAQs on Cat Eye Syndrome
No, Cat Eye Syndrome is not an inherited condition. It occurs randomly due to a chromosomal abnormality during the formation of reproductive cells or early embryonic development.
Unfortunately, there is no known way to prevent Cat Eye Syndrome, as it is a random chromosomal abnormality that occurs during early development.
No, the severity and manifestations of Cat Eye Syndrome can vary greatly among affected individuals, even within the same family.
Some may have more severe eye abnormalities, while others may have more significant intellectual disabilities or other associated conditions.
While individuals with Cat Eye Syndrome may have a reduced fertility rate, they can potentially have children. However, genetic counseling is recommended to understand the risks and implications for offspring.
Book Appointment with Cat Eye Syndrome treatment Specialist in Goregaon, Malad, Borivali Mumbai - Dr Anurag S. Agarwal Eye Clinic
If you face the following symptoms, such as Intellectual disability, Developmental delays, Congenital heart defects, for Cat Eye Syndrome, Consult – Dr. Anurag S Agarwal, a senior ophthalmologist in Mumbai with over 22 years of experience, who specialises in the diagnosis and treatment of genetic eye disorders. Schedule an appointment today on the call!
Contact Senior Eye Surgeon in Mumbai – Dr Anurag S. Agarwal. Dr Anurag Agarwal is available at 4 Hospitals in Mumbai Suburban.
- Apex Hospital – Borivali West
- Criticare Asia- Malad West
- Jain Hospital – Goregaon West
Book an Appointment with Dr Anurag S. Agarwal Eye Clinic in Goregaon, Mumbai Suburban today to schedule an evaluation.