Overview
Ptosis-strabismus-ectopic pupils syndrome is an extremely rare inherited eye condition that affects several structures of the eye. The name describes its three main features: ptosis (drooping of the upper eyelids), strabismus (misalignment of the eyes, sometimes called crossed eyes or squint), and ectopic pupils (pupils that are not centered in the iris but are displaced to an abnormal position). These features are typically present from birth or early infancy. Because the pupils are not in their normal position and the eyelids droop, vision can be significantly affected. The misalignment of the eyes may lead to amblyopia (lazy eye) if not addressed early. Some affected individuals may also have other minor eye abnormalities. The condition appears to run in families, suggesting a genetic cause, though the exact gene responsible has not been clearly identified in all cases. Treatment is mainly supportive and focused on preserving and improving vision. Surgery may be considered to correct the drooping eyelids (ptosis repair) and to realign the eyes (strabismus surgery). Glasses, patching therapy for amblyopia, and regular monitoring by an eye specialist are important parts of management. Because this syndrome is so rare, treatment plans are usually individualized based on the severity of each person's symptoms.
Also known as:
Key symptoms:
Drooping upper eyelids (ptosis)Misaligned or crossed eyes (strabismus)Pupils that are off-center or displaced (ectopic pupils)Reduced vision or blurry visionLazy eye (amblyopia)Difficulty with depth perceptionHead tilting to compensate for eye misalignmentAbnormal pupil shapeSensitivity to light
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Ptosis-strabismus-ectopic pupils syndrome.
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Specialists
View all specialists →No specialists are currently listed for Ptosis-strabismus-ectopic pupils 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-strabismus-ectopic pupils syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
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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 my child's ptosis, and does it need surgical correction?,Is the strabismus affecting my child's vision development?,Should we pursue genetic testing, and what might it tell us?,What is the risk of amblyopia, and how will we monitor for it?,When is the best time to consider surgery for the eyelids or eye alignment?,Are there other family members who should be examined?,What can we do at home to support our child's vision development?
Common questions about Ptosis-strabismus-ectopic pupils syndrome
What is Ptosis-strabismus-ectopic pupils syndrome?
Ptosis-strabismus-ectopic pupils syndrome is an extremely rare inherited eye condition that affects several structures of the eye. The name describes its three main features: ptosis (drooping of the upper eyelids), strabismus (misalignment of the eyes, sometimes called crossed eyes or squint), and ectopic pupils (pupils that are not centered in the iris but are displaced to an abnormal position). These features are typically present from birth or early infancy. Because the pupils are not in their normal position and the eyelids droop, vision can be significantly affected. The misalignment of
How is Ptosis-strabismus-ectopic pupils syndrome inherited?
Ptosis-strabismus-ectopic pupils syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Ptosis-strabismus-ectopic pupils syndrome typically begin?
Typical onset of Ptosis-strabismus-ectopic pupils syndrome is neonatal. Age of onset can vary across affected individuals.