Overview
Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome is an extremely rare genetic condition that affects the eyes and surrounding structures. The name describes its three main features: ptosis (drooping of the upper eyelids), limited ability to move the eyes upward, and the absence of the lacrimal punctum, which is the tiny opening in the inner corner of each eyelid that normally drains tears into the nose. Because the tear drainage system is missing or underdeveloped, affected individuals often experience excessive tearing (epiphora), as tears cannot drain properly and instead overflow onto the cheeks. The drooping eyelids can partially block vision, and the restricted upward eye movement may affect how a person sees objects above their line of sight. This syndrome is present from birth and is classified under congenital malformation syndromes that primarily affect the face. Because it is so rare, there is very limited published medical literature about it. Treatment is mainly supportive and surgical. Ptosis can be corrected or improved with eyelid surgery (blepharoplasty or frontalis sling procedures), and tear drainage problems may be addressed with surgical creation of an alternative drainage pathway (dacryocystorhinostomy). Management typically involves a team of eye specialists. There is currently no cure that addresses the underlying cause, but surgical and supportive treatments can significantly improve quality of life and visual function.
Key symptoms:
Drooping of the upper eyelids (ptosis)Difficulty moving the eyes upwardMissing tear drainage openings in the eyelidsExcessive tearing or watery eyesTears overflowing onto the cheeksReduced field of vision due to droopy eyelidsTilting the head backward to see betterPossible eye infections from poor tear drainagePossible amblyopia (lazy eye) if untreated in childhood
Clinical phenotype terms (18)— hover any for plain English
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 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome.
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Specialists
View all specialists →No specialists are currently listed for Ptosis-upper ocular movement limitation-absence of lacrimal punctum 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 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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 ptosis, and is it affecting my child's vision development?,When is the best time to consider surgery for the drooping eyelids?,What surgical options are available for the tear drainage problem?,Is there a risk of amblyopia, and should we start treatment now?,Should we pursue genetic testing to understand the cause better?,What signs of complications should I watch for at home?,Will my child need multiple surgeries as they grow?
Common questions about Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
What is Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome?
Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome is an extremely rare genetic condition that affects the eyes and surrounding structures. The name describes its three main features: ptosis (drooping of the upper eyelids), limited ability to move the eyes upward, and the absence of the lacrimal punctum, which is the tiny opening in the inner corner of each eyelid that normally drains tears into the nose. Because the tear drainage system is missing or underdeveloped, affected individuals often experience excessive tearing (epiphora), as tears cannot drain properly and
At what age does Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome typically begin?
Typical onset of Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome is neonatal. Age of onset can vary across affected individuals.