Overview
Blepharoptosis-myopia-ectopia lentis syndrome is an extremely rare inherited eye condition that affects several structures of the eye. The name describes its three main features: blepharoptosis (drooping of the upper eyelids), myopia (nearsightedness), and ectopia lentis (displacement of the lens inside the eye from its normal position). These eye problems are present from birth or early childhood and can significantly affect vision if not managed properly. The drooping eyelids can partially block vision, especially if they cover the pupil. Nearsightedness in this condition tends to be moderate to severe, meaning distant objects appear very blurry. The displaced lens can cause additional vision problems, including blurred or double vision, and may increase the risk of other eye complications such as glaucoma or retinal detachment over time. Because this syndrome is so rare, there is limited information about its full range of symptoms and long-term outcomes. Treatment is mainly focused on managing each eye problem individually. This may include glasses or contact lenses for nearsightedness, surgery to correct drooping eyelids (ptosis repair), and careful monitoring or surgical management of the displaced lens. Early diagnosis and regular follow-up with eye specialists are important to preserve vision and prevent complications.
Key symptoms:
Drooping upper eyelids (ptosis)Severe nearsightedness (myopia)Displaced lens in the eyeBlurred visionDifficulty seeing distant objectsPossible double visionReduced visual sharpnessRisk of increased eye pressure (glaucoma)Risk of retinal detachment
Clinical phenotype terms (10)— hover any for plain English
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 Blepharoptosis-myopia-ectopia lentis syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Blepharoptosis-myopia-ectopia lentis syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Blepharoptosis-myopia-ectopia lentis 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 Blepharoptosis-myopia-ectopia lentis syndrome.
Community
No community posts yet. Be the first to share your experience with Blepharoptosis-myopia-ectopia lentis syndrome.
Start the conversation →Latest news about Blepharoptosis-myopia-ectopia lentis syndrome
No recent news articles for Blepharoptosis-myopia-ectopia lentis syndrome.
Follow this condition to be notified when news becomes available.
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 treatment now?,Will my child need eyelid surgery, and if so, when is the best time?,How often should eye exams be scheduled to monitor for glaucoma or retinal problems?,Are there genetic tests that could help confirm the diagnosis or identify the cause?,What visual aids or school accommodations would you recommend?,Is there a risk that other family members could be affected?,Are there any activities or sports my child should avoid because of the displaced lens?
Common questions about Blepharoptosis-myopia-ectopia lentis syndrome
What is Blepharoptosis-myopia-ectopia lentis syndrome?
Blepharoptosis-myopia-ectopia lentis syndrome is an extremely rare inherited eye condition that affects several structures of the eye. The name describes its three main features: blepharoptosis (drooping of the upper eyelids), myopia (nearsightedness), and ectopia lentis (displacement of the lens inside the eye from its normal position). These eye problems are present from birth or early childhood and can significantly affect vision if not managed properly. The drooping eyelids can partially block vision, especially if they cover the pupil. Nearsightedness in this condition tends to be modera
How is Blepharoptosis-myopia-ectopia lentis syndrome inherited?
Blepharoptosis-myopia-ectopia lentis syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Blepharoptosis-myopia-ectopia lentis syndrome typically begin?
Typical onset of Blepharoptosis-myopia-ectopia lentis syndrome is childhood. Age of onset can vary across affected individuals.