Living with Cataract 11 multiple types
An eye condition in which the lens is cloudy from early in life, caused by changes in the PITX3 gene.
Understanding Cataract 11 multiple types
GARD describes it as non-syndromic, which means it is not part of a wider syndrome. GARD lists clouding of the lens that is present at birth among the common signs.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Clouding of the lens at birth (developmental cataract)
- Clouding of the eye's lens (cataract)
- Abnormally small eyeball (microphthalmia)
- Blindness
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 rare disease patient organizations for support
- 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
A change in the PITX3 gene causes this condition. It may be inherited in an autosomal dominant way, where one changed gene copy can cause it, or an autosomal recessive way, where a child gets a changed copy from each parent.
Also known as: cataract 11; cataract 11, syndromic, autosomal recessive; ctrct11; early-onset non-syndromic cataract caused by mutation in pitx3; pitx3 early-onset non-syndromic cataract
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Cataract 11 multiple types.
Explore research for Cataract 11 multiple types
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