Overview
Colobomatous macrophthalmia-microcornea syndrome is an extremely rare eye condition that affects the size and structure of the eyes. In this syndrome, the eyeball itself is larger than normal (a condition called macrophthalmia), while the clear front window of the eye (the cornea) is smaller than expected (called microcornea). Additionally, there are colobomas present, which are gaps or missing pieces in parts of the eye that form during early development in the womb. These colobomas can affect structures like the iris (the colored part of the eye), the retina (the light-sensing layer at the back of the eye), or the optic nerve. The combination of these eye abnormalities can lead to significant vision problems, including reduced visual sharpness, sensitivity to light, and in some cases, more serious vision loss depending on which parts of the eye are affected by the colobomas. The unusual size mismatch between the large eyeball and small cornea can also contribute to other eye complications such as increased eye pressure (glaucoma) or lens problems. Because this condition is so rare, treatment options are mainly supportive and focused on managing symptoms. This may include corrective lenses, treatment for glaucoma if it develops, and surgical interventions for specific complications. Regular monitoring by an eye specialist is essential to catch and address any changes early. There is currently no cure that corrects the underlying structural abnormalities of the eye.
Also known as:
Key symptoms:
Abnormally large eyeballsSmaller than normal corneasGaps or missing tissue in the iris (coloboma)Gaps in the retina or optic nerveReduced vision or blurry eyesightSensitivity to bright lightUnusual appearance of the pupils (keyhole-shaped)Possible increased eye pressure (glaucoma)Possible lens abnormalitiesDifficulty with depth perceptionPossible nystagmus (involuntary eye movements)
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 macrophthalmia-microcornea syndrome.
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Specialists
View all specialists →No specialists are currently listed for Colobomatous macrophthalmia-microcornea 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 macrophthalmia-microcornea syndrome.
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 are the colobomas, and which parts of my child's eyes are affected?,What is the current level of vision, and how might it change over time?,Is there a risk of glaucoma, and how often should eye pressure be checked?,Should we pursue genetic testing, and what might it tell us?,What low vision aids or therapies would be most helpful right now?,Are there any activities or situations we should avoid to protect the eyes?,How often should follow-up eye exams be scheduled?
Common questions about Colobomatous macrophthalmia-microcornea syndrome
What is Colobomatous macrophthalmia-microcornea syndrome?
Colobomatous macrophthalmia-microcornea syndrome is an extremely rare eye condition that affects the size and structure of the eyes. In this syndrome, the eyeball itself is larger than normal (a condition called macrophthalmia), while the clear front window of the eye (the cornea) is smaller than expected (called microcornea). Additionally, there are colobomas present, which are gaps or missing pieces in parts of the eye that form during early development in the womb. These colobomas can affect structures like the iris (the colored part of the eye), the retina (the light-sensing layer at the b
How is Colobomatous macrophthalmia-microcornea syndrome inherited?
Colobomatous macrophthalmia-microcornea syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Colobomatous macrophthalmia-microcornea syndrome typically begin?
Typical onset of Colobomatous macrophthalmia-microcornea syndrome is neonatal. Age of onset can vary across affected individuals.