Living with Cat eye syndrome
A chromosome condition that can affect the eyes, ears, heart, kidneys, and the anal area.
Understanding Cat eye syndrome
People with it have at least one small extra chromosome made of material from chromosome 22 in each cell. Signs vary widely and may include differences in the eyes, ears, anal region, heart, or kidneys. Most cases occur by chance in people with no family history. It begins during pregnancy or at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Eye gap in the iris ("cat eye," iris coloboma)
- Gap at the back of the eye (chorioretinal coloboma)
- Anal opening that is missing (anal atresia)
- Small or missing kidneys
- Heart differences
- Downward slanting eyelid openings
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include digestive system specialists, eye disease specialists, genetic specialists and kidney specialists.
- 3Consider genetic testing
Changes in CECR are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Chromosome Disorder Outreach and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Cat eye syndrome comes from an extra small chromosome made of genetic material from chromosome 22. Most cases occur by chance, with no family history.
Also known as: cat-eye syndrome; cat-eye syndrome (type i); ces; ces - cat eye syndrome; chromosome 22 partial tetrasomy; inv dup(22)(q11)
Patient organizations
- Chromosome Disorder OutreachCat eye syndrome · United States
- Pull-thru NetworkCat eye syndrome · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Cat eye syndrome.
Explore research for Cat eye syndrome
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