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.
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
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Congenital oculomotor nerve palsy.
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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 Congenital oculomotor nerve palsy.
Community
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Caregiver Resources
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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.