Overview
Microcornea-glaucoma-absent frontal sinuses syndrome is an extremely rare genetic condition that affects the eyes and certain facial bones. The name describes its three main features: microcornea (abnormally small corneas, which are the clear front windows of the eyes), glaucoma (increased pressure inside the eyes that can damage vision), and the absence or underdevelopment of the frontal sinuses (the air-filled spaces behind the forehead). Because the corneas are smaller than normal, vision may be affected from birth or early childhood. Glaucoma, if left untreated, can lead to progressive and permanent vision loss by damaging the optic nerve. The absent frontal sinuses are typically discovered on imaging studies and usually do not cause symptoms on their own. This syndrome has been reported in only a handful of families in the medical literature, making it one of the rarest eye conditions known. Because so few cases have been described, our understanding of the full range of symptoms and the best treatments is still limited. Treatment is mainly focused on managing glaucoma to protect vision. This may include eye drops that lower eye pressure, laser procedures, or surgery. Regular monitoring by an eye specialist is essential to catch any changes in eye pressure early. Corrective lenses or other visual aids may also be needed to address refractive errors caused by the small corneas. There is currently no cure for this syndrome, and management is lifelong.
Key symptoms:
Abnormally small corneas (the clear front part of the eye)Increased eye pressure (glaucoma)Vision loss or blurred visionAbsent or underdeveloped frontal sinusesSensitivity to lightTearing or watery eyes in infantsCloudy-looking eyes in babiesNearsightedness or farsightednessEye pain or discomfort from high pressure
Clinical phenotype terms (10)— hover any for plain English
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 Microcornea-glaucoma-absent frontal sinuses syndrome.
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Specialists
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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-glaucoma-absent frontal sinuses 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
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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 glaucoma, and what is the current eye pressure in each eye?,What treatment options are best for my child's age and severity of glaucoma?,How often will eye exams and pressure checks be needed?,Are there signs I should watch for at home that might indicate worsening glaucoma?,Should we pursue genetic testing, and what would the results mean for our family?,What visual aids or school accommodations might be helpful?,Is surgery likely to be needed, and what are the risks and benefits?
Common questions about Microcornea-glaucoma-absent frontal sinuses syndrome
What is Microcornea-glaucoma-absent frontal sinuses syndrome?
Microcornea-glaucoma-absent frontal sinuses syndrome is an extremely rare genetic condition that affects the eyes and certain facial bones. The name describes its three main features: microcornea (abnormally small corneas, which are the clear front windows of the eyes), glaucoma (increased pressure inside the eyes that can damage vision), and the absence or underdevelopment of the frontal sinuses (the air-filled spaces behind the forehead). Because the corneas are smaller than normal, vision may be affected from birth or early childhood. Glaucoma, if left untreated, can lead to progressive and
How is Microcornea-glaucoma-absent frontal sinuses syndrome inherited?
Microcornea-glaucoma-absent frontal sinuses syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Microcornea-glaucoma-absent frontal sinuses syndrome typically begin?
Typical onset of Microcornea-glaucoma-absent frontal sinuses syndrome is neonatal. Age of onset can vary across affected individuals.