Overview
Microcornea-myopic chorioretinal atrophy-telecanthus syndrome is an extremely rare genetic eye condition that affects several structures of the eye and the area around the eyes. The name describes its three main features: microcornea (an unusually small cornea, which is the clear front window of the eye), myopic chorioretinal atrophy (damage to the layers at the back of the eye associated with severe nearsightedness), and telecanthus (an increased distance between the inner corners of the eyes, giving the appearance of widely spaced eyes even though the eyeballs themselves may be normally positioned). People with this syndrome typically experience significant vision problems from an early age. The severe nearsightedness (myopia) combined with damage to the retina and choroid (the blood vessel layer behind the retina) can lead to progressive vision loss. The small cornea may also contribute to other eye complications. Telecanthus is primarily a cosmetic feature but can be an important clue for diagnosis. Because this condition is so rare, there is no specific cure or targeted treatment available. Management focuses on correcting vision with glasses or contact lenses, monitoring for retinal complications, and addressing any other eye problems as they arise. Regular follow-up with eye specialists is essential to track changes in vision and retinal health over time. In some cases, surgical options may be considered for specific complications.
Also known as:
Key symptoms:
Unusually small corneas (the clear front part of the eye)Severe nearsightedness (difficulty seeing things far away)Damage to the back layers of the eye (chorioretinal atrophy)Widely spaced inner corners of the eyes (telecanthus)Progressive vision lossReduced visual sharpnessDifficulty with night vision or low-light conditionsFlat or broad nasal bridge appearancePossible sensitivity to light
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Microcornea-myopic chorioretinal atrophy-telecanthus syndrome.
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Specialists
View all specialists →No specialists are currently listed for Microcornea-myopic chorioretinal atrophy-telecanthus 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 Microcornea-myopic chorioretinal atrophy-telecanthus 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 is the chorioretinal atrophy, and how quickly might my vision change?,What signs of retinal complications should I watch for between appointments?,How often should I have retinal examinations?,Are there any low vision aids or rehabilitation services you recommend?,Should my family members be examined or tested for this condition?,Is genetic testing available, and would it help clarify the diagnosis or guide treatment?,Are there any clinical trials or research studies I could participate in?
Common questions about Microcornea-myopic chorioretinal atrophy-telecanthus syndrome
What is Microcornea-myopic chorioretinal atrophy-telecanthus syndrome?
Microcornea-myopic chorioretinal atrophy-telecanthus syndrome is an extremely rare genetic eye condition that affects several structures of the eye and the area around the eyes. The name describes its three main features: microcornea (an unusually small cornea, which is the clear front window of the eye), myopic chorioretinal atrophy (damage to the layers at the back of the eye associated with severe nearsightedness), and telecanthus (an increased distance between the inner corners of the eyes, giving the appearance of widely spaced eyes even though the eyeballs themselves may be normally posi
How is Microcornea-myopic chorioretinal atrophy-telecanthus syndrome inherited?
Microcornea-myopic chorioretinal atrophy-telecanthus syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Microcornea-myopic chorioretinal atrophy-telecanthus syndrome typically begin?
Typical onset of Microcornea-myopic chorioretinal atrophy-telecanthus syndrome is childhood. Age of onset can vary across affected individuals.