Overview
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome is an extremely rare inherited eye condition that affects several structures in the back of the eye. The disease is characterized by a combination of three main eye problems: a coloboma (a gap or notch) in the optic disc (the point where the optic nerve connects to the eye), wasting away (atrophy) of the macula (the central part of the retina responsible for sharp, detailed vision), and chorioretinopathy (damage to the choroid and retina layers at the back of the eye). Together, these abnormalities can lead to significant vision problems, including reduced central vision, difficulty seeing fine details, and potentially broader visual field loss. Because this syndrome is so rare, the medical understanding of it is still limited. The condition is typically present from birth or early childhood, as the structural abnormalities in the eye develop before birth. There is currently no cure or specific treatment that can reverse the underlying eye changes. Management focuses on maximizing remaining vision through low-vision aids, corrective lenses, and supportive therapies. Regular monitoring by an eye specialist is important to track any changes in vision over time and to address complications if they arise. Genetic counseling is recommended for affected families to understand the risk of passing the condition to future children.
Key symptoms:
Reduced central visionBlurred or distorted visionDifficulty seeing fine detailsGap or notch in the optic disc (coloboma)Thinning or wasting of the central retina (macular atrophy)Damage to the retina and choroid layers of the eyePossible visual field lossDifficulty with reading or close-up tasksSensitivity to light in some casesNystagmus (involuntary eye movements) in some cases
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 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Colobomatous optic disc-macular atrophy-chorioretinopathy 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 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome.
Community
No community posts yet. Be the first to share your experience with Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome.
Start the conversation →Latest news about Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
No recent news articles for Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome.
Follow this condition to be notified when news becomes available.
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 much vision does my child (or do I) currently have, and what changes should we expect over time?,Are there any complications we should watch for, such as retinal detachment?,What low-vision aids or assistive devices would be most helpful?,Should we pursue genetic testing, and what would the results mean for our family?,Are there any clinical trials or emerging treatments that might be relevant?,What educational or workplace accommodations should we request?,How often should follow-up eye exams be scheduled?
Common questions about Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
What is Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome?
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome is an extremely rare inherited eye condition that affects several structures in the back of the eye. The disease is characterized by a combination of three main eye problems: a coloboma (a gap or notch) in the optic disc (the point where the optic nerve connects to the eye), wasting away (atrophy) of the macula (the central part of the retina responsible for sharp, detailed vision), and chorioretinopathy (damage to the choroid and retina layers at the back of the eye). Together, these abnormalities can lead to significant visio
How is Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome inherited?
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome typically begin?
Typical onset of Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome is neonatal. Age of onset can vary across affected individuals.