Overview
X-linked endothelial corneal dystrophy (XECD) is a very rare inherited eye condition that affects the cornea, which is the clear front window of the eye. This disease primarily impacts the endothelial cells, which form the innermost layer of the cornea. These cells are responsible for keeping the cornea clear by pumping excess fluid out of it. When these cells do not work properly, the cornea becomes swollen and cloudy, leading to vision problems. Because this condition is X-linked, it mainly affects males, though females who carry the gene change may show milder symptoms. Males typically present with significant corneal clouding (also called corneal edema) that can be noticed at birth or in early infancy. The clouding can affect one or both eyes and may be accompanied by a moon crater-like appearance of the endothelial cells when viewed under a special microscope (specular microscopy). Some affected individuals may also develop nystagmus (involuntary eye movements) due to poor vision early in life. There is currently no cure for XECD. Treatment focuses on managing symptoms and preserving vision. Corneal transplant surgery (keratoplasty) may be considered in severe cases to replace the damaged cornea with a healthy donor cornea. Hypertonic saline eye drops may help reduce corneal swelling temporarily. Early intervention is important to prevent amblyopia (lazy eye) in young children.
Also known as:
Key symptoms:
Cloudy or hazy corneasBlurred or reduced visionCorneal swelling (edema)Involuntary eye movements (nystagmus)Ground-glass appearance of the corneaVision problems from birth or early infancySensitivity to lightTearing of the eyesPossible lazy eye (amblyopia) if untreated
Clinical phenotype terms (7)— hover any for plain English
X-linked dominant
Carried on the X chromosome; a single copy can cause the condition
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for X-linked endothelial corneal dystrophy.
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Specialists
View all specialists →No specialists are currently listed for X-linked endothelial corneal dystrophy.
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 X-linked endothelial corneal dystrophy.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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 corneal clouding, and how much is it affecting my child's vision?,Is corneal transplant surgery recommended now, or should we wait and monitor?,What type of corneal transplant would be best, and what are the risks?,Are there eye drops or other treatments that can help in the meantime?,Should we be concerned about amblyopia, and what steps can we take to prevent it?,Should other family members be examined for signs of this condition?,Is genetic testing available to confirm the diagnosis and identify carriers in the family?
Common questions about X-linked endothelial corneal dystrophy
What is X-linked endothelial corneal dystrophy?
X-linked endothelial corneal dystrophy (XECD) is a very rare inherited eye condition that affects the cornea, which is the clear front window of the eye. This disease primarily impacts the endothelial cells, which form the innermost layer of the cornea. These cells are responsible for keeping the cornea clear by pumping excess fluid out of it. When these cells do not work properly, the cornea becomes swollen and cloudy, leading to vision problems. Because this condition is X-linked, it mainly affects males, though females who carry the gene change may show milder symptoms. Males typically pre
How is X-linked endothelial corneal dystrophy inherited?
X-linked endothelial corneal dystrophy follows a x-linked dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does X-linked endothelial corneal dystrophy typically begin?
Typical onset of X-linked endothelial corneal dystrophy is neonatal. Age of onset can vary across affected individuals.