By Dr. Itua Enakhe (OD)
Cat Eye Syndrome (CES), also called Schmid-Fraccaro Syndrome, is a rare genetic disorder named for a unique eye feature called coloboma, where the iris appears slit-like, similar to that of a cat. Though uncommon, understanding this condition is important for timely medical care and vision management. At SpecSMART Eye Clinic, our optometrists and opticians offer comprehensive support for individuals with CES and other rare ocular conditions.
Genetic Basis of Cat Eye Syndrome
CES is caused by a chromosomal defect involving a supernumerary marker chromosome. This extra chromosome contains duplicated genetic material from chromosome 22. The presence of this additional material disrupts normal development and can lead to physical and cognitive abnormalities.
Recognizing Cat Eye Syndrome: Common Features
One of the defining features of Cat Eye Syndrome is a coloboma, which is a notch or gap in the iris that resembles a cat's eye. However, the condition can affect multiple systems and may present with other signs such as:
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Facial abnormalities like low-set ears, a small jaw, and cleft palate
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Congenital heart defects including atrial and ventricular septal defects
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Renal anomalies such as horseshoe kidney or underdeveloped kidneys
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Developmental delays and learning disabilities
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Growth delays and variable intellectual function
Each case is unique, and not all symptoms may appear in every individual.
Diagnosis and Clinical Management
Cat Eye Syndrome is typically diagnosed through a combination of physical examination, family history, and chromosomal analysis such as fluorescence in situ hybridization (FISH) or karyotype testing. Once diagnosed, care must be coordinated across multiple specialties.
A multidisciplinary approach is essential and often includes:
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Genetic counseling and pediatric care
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Developmental therapy and special education
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Cardiologic and nephrologic monitoring
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Regular eye care from qualified optometrists and opticians
SpecSMART Eye Clinic provides critical support by managing vision-related symptoms and ensuring regular ocular assessments for patients diagnosed with CES.
Prognosis and Long-Term Outlook
The outlook for individuals with CES varies depending on the severity of associated anomalies. With proper medical and developmental interventions, many can lead fulfilling lives. Vision support plays an essential role, particularly for those experiencing coloboma or other ocular irregularities.
At SpecSMART Eye Clinic, we offer vision correction, optical aids, and tailored solutions for improving visual comfort and daily functioning.
FAQs About Cat Eye Syndrome (CES)
What causes Cat Eye Syndrome?
CES is caused by an extra small chromosome that contains duplicated material from chromosome 22. It typically arises as a random genetic event, not inherited.
Is Cat Eye Syndrome treatable?
While there is no cure for CES, many of its symptoms—including vision issues—can be managed with proper medical and optical care.
What eye problems are associated with CES?
Coloboma is the most notable eye condition linked to CES. Other issues may include refractive errors, strabismus, and reduced visual acuity.
How can SpecSMART Eye Clinic help?
Our opticians and optometrists offer personalized eye exams, visual aids, and continuous monitoring for children and adults with CES.
Conclusion
Cat Eye Syndrome is a rare chromosomal disorder with varied physical and developmental effects. With early diagnosis and comprehensive care—including regular eye checkups—individuals with CES can enjoy improved health and independence. SpecSMART Eye Clinic in Lagos (Ikoyi and Ikeja) provides trusted eye care for CES and other rare ocular conditions.
📍Contact SpecSMART Eye Clinic Ikeja
Ikeja Branch
Ile-Oja Mall, Opebi Link Road, Ikeja.
📞 0703 839 1197