Living with Ectopia lentis-chorioretinal dystrophy-myopia syndrome
A rare genetic eye condition with a displaced lens, cataracts, retina problems, and nearsightedness.
Understanding Ectopia lentis-chorioretinal dystrophy-myopia syndrome
People have lens problems, including a lens that is out of place and cataracts, and retina problems, including widespread retinal dystrophy and retinal detachment. Nearsightedness varies. Some people also have a small head and intellectual disability. Signs show up in the newborn and infant years.
Signs & symptoms
GARD doesn't list specific symptoms for this condition separately, but the summary describes these features:
- Lens out of place (ectopia lentis)
- Cataracts
- Retinal dystrophy
- Retinal detachment
- Nearsightedness (myopia)
- Small head and intellectual disability 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
Specialists who may be involved include eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- 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 says changes in a person's genes cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: ectopia lentis, chorioretinal dystrophy, myopia syndrome; noble-bass-sherman syndrome
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-chorioretinal dystrophy-myopia syndrome.
Explore research for Ectopia lentis-chorioretinal dystrophy-myopia syndrome
Explore actively recruiting Ectopia lentis-chorioretinal dystrophy-myopia syndrome studies with HealthSpark.
Find actively recruiting studies for Ectopia lentis-chorioretinal dystrophy-myopia syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Ectopia lentis-chorioretinal dystrophy-myopia syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Ectopia lentis-chorioretinal dystrophy-myopia syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Ectopia lentis-chorioretinal dystrophy-myopia syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.