Congenital oculomotor nerve palsy

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Overview

Congenital oculomotor nerve palsy (also called congenital third nerve palsy or congenital CN III palsy) is a rare condition present from birth in which the third cranial nerve — the nerve that controls most eye movements and the eyelid — does not work properly. This nerve normally helps move the eye up, down, and inward, keeps the eyelid open, and controls how the pupil responds to light. When it is damaged or does not develop correctly before birth, one or both eyes may not move normally, the eyelid may droop (a condition called ptosis), and the pupil may appear larger than normal. Children with this condition are often noticed at birth or shortly after because one eye appears to point outward or downward, or the eyelid is drooping. Because the eye is not aligned properly, the brain may start to ignore the signals from that eye, which can lead to a condition called amblyopia (lazy eye). This is one of the most important complications to treat early, because vision development happens quickly in the first years of life. Treatment focuses on protecting vision and improving the appearance and function of the eye. This may include patching the stronger eye to encourage the weaker eye to develop, surgery to lift the drooping eyelid, and surgery to realign the eyes (strabismus surgery). While there is no cure, early and ongoing treatment can significantly improve quality of life and help children develop useful vision in the affected eye.

Also known as:

Key symptoms:

Drooping eyelid (ptosis) on one sideEye pointing outward or downward (misaligned eye)Enlarged pupil that does not respond normally to lightLimited ability to move the eye up, down, or inwardDouble vision (in older children who can report it)Lazy eye (amblyopia) due to the brain ignoring the affected eyeHead tilting or turning to compensate for poor eye alignmentReduced vision in the affected eye if untreated

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Congenital oculomotor nerve palsy.

View clinical trials →

No actively recruiting trials found for Congenital oculomotor nerve palsy at this time.

New trials open frequently. Follow this disease to get notified.

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Specialists

5 foundView all specialists →
BB
Barbara B Biesecker
CLARKS SUMMIT, PA
Specialist
PI on 16 active trials
CF
Casandra Fink
COLORADO SPRINGS, CO
Specialist
PI on 1 active trial33 Congenital oculomotor nerve palsy publications

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Congenital oculomotor nerve palsy.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Congenital oculomotor nerve palsy

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

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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 severely is my child's oculomotor nerve affected, and what does that mean for their vision long-term?,When should we start patching therapy, and how many hours a day will my child need to wear the patch?,At what age would you recommend surgery for the eyelid or eye alignment, and how many surgeries might be needed?,What are the signs that amblyopia is developing, and how will we monitor for it?,Should my child have a brain MRI or genetic testing, and why?,Are there any school accommodations or visual aids my child might benefit from?,What is the likelihood that my child will have useful vision in the affected eye with treatment?

Common questions about Congenital oculomotor nerve palsy

What is Congenital oculomotor nerve palsy?

Congenital oculomotor nerve palsy (also called congenital third nerve palsy or congenital CN III palsy) is a rare condition present from birth in which the third cranial nerve — the nerve that controls most eye movements and the eyelid — does not work properly. This nerve normally helps move the eye up, down, and inward, keeps the eyelid open, and controls how the pupil responds to light. When it is damaged or does not develop correctly before birth, one or both eyes may not move normally, the eyelid may droop (a condition called ptosis), and the pupil may appear larger than normal. Children

At what age does Congenital oculomotor nerve palsy typically begin?

Typical onset of Congenital oculomotor nerve palsy is neonatal. Age of onset can vary across affected individuals.

Which specialists treat Congenital oculomotor nerve palsy?

5 specialists and care centers treating Congenital oculomotor nerve palsy are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.