Living with Ectopia lentis 2, isolated, autosomal recessive
A rare eye condition in which the lens is out of place and the iris is shaped differently, causing vision problems.
Understanding Ectopia lentis 2, isolated, autosomal recessive
The lens can be partly or fully out of place, and the colored part of the eye (iris) may have a different shape or structure. Light may not focus correctly, causing vision problems. Some people develop early cataracts, higher eye pressure, or retinal detachment. Features may differ from family member to family member and between the two eyes. It mainly affects the eyes, but a few people have had bone effects.
Signs & symptoms
GARD doesn't list a separate symptom list for this condition, but the summary describes these features:
- Lens partly or fully out of place
- Changes in the shape of the iris
- Blurry vision (light doesn't focus correctly)
- Early cataracts
- Higher eye pressure in some people
- Retinal detachment in some people
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
GARD lists autosomal recessive inheritance, meaning a child inherits a changed copy of the gene from each parent. It doesn't list a specific gene.
Also known as: ectol2; ectopia lentis, isolated, autosomal recessive
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 Ectopia lentis 2, isolated, autosomal recessive.
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