Overview
Epiblepharon is a congenital eyelid condition in which a horizontal fold of redundant skin and underlying orbicularis oculi muscle pushes the eyelashes inward toward the eye (globe). It most commonly affects the lower eyelids, though the upper eyelids can also be involved. The condition is particularly prevalent among children of East Asian descent and is typically present from birth. Epiblepharon should be distinguished from congenital entropion, in which the entire eyelid margin turns inward; in epiblepharon, the eyelid margin itself remains in a normal position, but the overriding skin fold directs the lashes against the cornea and conjunctiva. The primary symptoms result from the misdirected eyelashes (pseudotrichiasis) contacting the ocular surface. Patients may experience tearing (epiphora), eye irritation, foreign body sensation, photophobia, and chronic eye rubbing. In more severe or persistent cases, the constant contact of lashes against the cornea can lead to punctate corneal erosions, corneal abrasions, and in rare instances, corneal scarring or astigmatism that may affect vision. Many mild cases in young children resolve spontaneously as the facial structures grow and mature, particularly with development of the nasal bridge and redistribution of periorbital soft tissue. Management depends on the severity of symptoms and corneal involvement. In mild cases, conservative treatment with lubricating eye drops or ointments may be sufficient to protect the corneal surface while awaiting spontaneous resolution with facial growth. When significant corneal damage is present or symptoms persist beyond early childhood, surgical correction is recommended. The most common surgical approach involves excision of a strip of skin and orbicularis muscle from the affected eyelid (modified Hotz procedure or similar techniques), which effectively redirects the eyelashes away from the globe. Surgical outcomes are generally excellent with low recurrence rates.
Multifactorial
Caused by a mix of several genes and environmental factors
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Epiblepharon.
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Treatment Centers
8 centersChildren's Hospital Colorado Rare Disease Program ↗
Children's Hospital Colorado
📍 Aurora, CO
👤 Boston Children's Hospital Rare Disease Program
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDBoston Children's Hospital Rare Disease Program ↗
Boston Children's Hospital
📍 Boston, MA
👤 Boston Children's Hospital Rare Disease Program
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
🏨 Children'sAnn & Robert H. Lurie Children's Hospital Genetics ↗
Lurie Children's Hospital
📍 Chicago, IL
👤 Boston Children's Hospital Rare Disease Program
🏥 NORDCincinnati Children's Hospital Medical Center ↗
Cincinnati Children's
📍 Cincinnati, OH
👤 Boston Children's Hospital Rare Disease Program
🏨 Children'sNationwide Children's Hospital Rare Disease Center ↗
Nationwide Children's Hospital
📍 Columbus, OH
👤 Boston Children's Hospital Rare Disease Program
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
Travel Grants
No travel grants are currently matched to Epiblepharon.
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Caregiver Resources
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Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Common questions about Epiblepharon
What is Epiblepharon?
Epiblepharon is a congenital eyelid condition in which a horizontal fold of redundant skin and underlying orbicularis oculi muscle pushes the eyelashes inward toward the eye (globe). It most commonly affects the lower eyelids, though the upper eyelids can also be involved. The condition is particularly prevalent among children of East Asian descent and is typically present from birth. Epiblepharon should be distinguished from congenital entropion, in which the entire eyelid margin turns inward; in epiblepharon, the eyelid margin itself remains in a normal position, but the overriding skin fold
How is Epiblepharon inherited?
Epiblepharon follows a multifactorial inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Epiblepharon typically begin?
Typical onset of Epiblepharon is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Epiblepharon?
15 specialists and care centers treating Epiblepharon are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.