Living with Cataract 6 multiple types
An eye condition with cloudy lenses, caused by changes in the EPHA2 gene, that can come with nearsightedness.
Understanding Cataract 6 multiple types
It can include several types of cataract. GARD lists cataract at the back of the lens (posterior polar cataract) and cloudy lenses present at birth among its signs. Some people are also nearsighted or have changes at the back of the eye.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cataract at the back of the lens (posterior polar)
- Cloudy lens present at birth (developmental cataract)
- Nearsightedness (myopia)
- Thinning at the back of the eye (chorioretinal atrophy)
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 EPHA2 gene causes this condition. It is inherited in an autosomal dominant way, so one changed copy of the gene can cause it.
Also known as: cataract (disease) caused by mutation in epha2; cataract 6, congenital total; cataract 6, posterior polar; cataract, age-related cortical, 2; ctrct6; epha2 cataract (disease)
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 6 multiple types.
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