Overview
Ectopia lentis-chorioretinal dystrophy-myopia syndrome is an extremely rare inherited eye condition that affects several parts of the eye at the same time. The name describes its three main features: ectopia lentis (where the lens of the eye is displaced or shifted out of its normal position), chorioretinal dystrophy (a progressive breakdown of the choroid and retina, which are the layers at the back of the eye responsible for vision), and myopia (nearsightedness, often severe). Together, these problems can lead to significant vision loss over time. Because the lens is out of place, people with this syndrome may experience blurry or distorted vision from an early age. The chorioretinal dystrophy can cause further loss of central or peripheral vision as the retina gradually deteriorates. The high degree of myopia adds to the visual difficulties and may increase the risk of retinal detachment. There is currently no cure for this syndrome. Treatment focuses on managing symptoms and preserving as much vision as possible. This may include corrective lenses or glasses for myopia, surgical intervention if the displaced lens causes complications such as glaucoma, and regular monitoring by an eye specialist to track retinal changes. Low-vision aids and rehabilitation services can help affected individuals maintain independence. The condition is also sometimes referred to by its Orphanet designation ORPHA:1884.
Also known as:
Key symptoms:
Displaced lens in one or both eyesSevere nearsightedness (myopia)Progressive vision lossDeterioration of the retina and choroid (back of the eye)Blurry or distorted visionDifficulty seeing in dim light or at nightLoss of central visionLoss of peripheral visionIncreased risk of retinal detachmentPossible development of glaucoma
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Ectopia lentis-chorioretinal dystrophy-myopia syndrome.
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Specialists
View all specialists →No specialists are currently listed for Ectopia lentis-chorioretinal dystrophy-myopia syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Ectopia lentis-chorioretinal dystrophy-myopia syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe is the lens displacement, and does it need surgical correction at this time?,What is the current state of the retina, and how quickly might the chorioretinal dystrophy progress?,Are there signs of glaucoma or increased eye pressure that need treatment?,How often should eye examinations be scheduled to monitor for changes?,Would genetic testing help confirm the diagnosis or provide information for family planning?,What low-vision aids or rehabilitation services would you recommend?,What are the warning signs of retinal detachment, and what should we do if they occur?
Common questions about Ectopia lentis-chorioretinal dystrophy-myopia syndrome
What is Ectopia lentis-chorioretinal dystrophy-myopia syndrome?
Ectopia lentis-chorioretinal dystrophy-myopia syndrome is an extremely rare inherited eye condition that affects several parts of the eye at the same time. The name describes its three main features: ectopia lentis (where the lens of the eye is displaced or shifted out of its normal position), chorioretinal dystrophy (a progressive breakdown of the choroid and retina, which are the layers at the back of the eye responsible for vision), and myopia (nearsightedness, often severe). Together, these problems can lead to significant vision loss over time. Because the lens is out of place, people wi
How is Ectopia lentis-chorioretinal dystrophy-myopia syndrome inherited?
Ectopia lentis-chorioretinal dystrophy-myopia syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Ectopia lentis-chorioretinal dystrophy-myopia syndrome typically begin?
Typical onset of Ectopia lentis-chorioretinal dystrophy-myopia syndrome is childhood. Age of onset can vary across affected individuals.