Overview
Congenital hereditary endothelial dystrophy type II (CHED2), also known as congenital hereditary endothelial dystrophy with autosomal recessive inheritance, is a rare eye condition that affects the cornea — the clear front window of the eye. The cornea normally stays clear because a thin layer of cells called the endothelium pumps excess fluid out of it. In CHED2, these endothelial cells do not work properly from birth, causing the cornea to become swollen and cloudy. This cloudiness is present at birth or develops within the first few weeks of life, and it affects both eyes. Babies with CHED2 typically have milky-white or blue-gray cloudy corneas, which can significantly impair vision. Tearing (watery eyes) may also be present, though the condition is usually painless, which helps distinguish it from some other causes of cloudy corneas in infants. Because vision is blocked during a critical period of visual development, children are at high risk for developing amblyopia (lazy eye) and nystagmus (involuntary eye movements) if the condition is not treated early. The main treatment for CHED2 is corneal transplantation (keratoplasty), which replaces the cloudy cornea with a clear donor cornea. Early surgery is important to allow normal visual development. Newer techniques such as endothelial keratoplasty (DSAEK or DMEK), which replace only the damaged inner layer of the cornea, are increasingly being used and may offer better outcomes. Even with successful surgery, long-term follow-up is needed to monitor for graft rejection and to manage any remaining vision problems with glasses, contact lenses, or amblyopia therapy.
Also known as:
Key symptoms:
Cloudy or hazy corneas present from birth or early infancyMilky-white or blue-gray appearance of the eyesPoor vision or apparent inability to see clearlyInvoluntary back-and-forth eye movements (nystagmus)Watery or tearing eyesThickened corneasBoth eyes affected equallySensitivity to light in some casesLazy eye (amblyopia) due to blocked visionDifficulty making eye contact or tracking objects
Clinical phenotype terms (9)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
FDA & Trial Timeline
3 eventsCentre Hospitalier Universitaire de Saint Etienne
University College, London
Asociación para Evitar la Ceguera en México — PHASE1
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Congenital hereditary endothelial dystrophy type II.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →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 hereditary endothelial dystrophy type II.
Community
No community posts yet. Be the first to share your experience with Congenital hereditary endothelial dystrophy type II.
Start the conversation →Latest news about Congenital hereditary endothelial dystrophy type II
Disease timeline:
New recruiting trial: Study to Assess Safety and Tolerability of Multiple Doses of EO2002
A new clinical trial is recruiting patients for Congenital hereditary endothelial dystrophy type II
New recruiting trial: Analysis of the Genotype/Phenotype Relationship in the Fuchs' Corneal Endothelial Dystrophy in France
A new clinical trial is recruiting patients for Congenital hereditary endothelial dystrophy type II
New recruiting trial: FECD-TRACE: Fuchs' Endothelial Corneal Dystrophy TRAjectory and Correlation With Genotype in the United Kingdom
A new clinical trial is recruiting patients for Congenital hereditary endothelial dystrophy type II
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 in my child's eyes, and how much is it affecting their vision?,When is the best time to perform corneal transplant surgery, and which surgical technique do you recommend?,What are the risks of corneal transplant rejection in a child, and how can we minimize them?,Will my child need more than one corneal transplant over their lifetime?,What vision rehabilitation services should we start, and when?,Should we pursue genetic testing, and what does it mean for future pregnancies?,Are there any clinical trials or new treatments being developed for this condition?
Common questions about Congenital hereditary endothelial dystrophy type II
What is Congenital hereditary endothelial dystrophy type II?
Congenital hereditary endothelial dystrophy type II (CHED2), also known as congenital hereditary endothelial dystrophy with autosomal recessive inheritance, is a rare eye condition that affects the cornea — the clear front window of the eye. The cornea normally stays clear because a thin layer of cells called the endothelium pumps excess fluid out of it. In CHED2, these endothelial cells do not work properly from birth, causing the cornea to become swollen and cloudy. This cloudiness is present at birth or develops within the first few weeks of life, and it affects both eyes. Babies with CHED
How is Congenital hereditary endothelial dystrophy type II inherited?
Congenital hereditary endothelial dystrophy type II follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Congenital hereditary endothelial dystrophy type II typically begin?
Typical onset of Congenital hereditary endothelial dystrophy type II is neonatal. Age of onset can vary across affected individuals.
Are there clinical trials for Congenital hereditary endothelial dystrophy type II?
Yes — 1 recruiting clinical trial is currently listed for Congenital hereditary endothelial dystrophy type II on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Congenital hereditary endothelial dystrophy type II?
6 specialists and care centers treating Congenital hereditary endothelial dystrophy type II are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.