Overview
Microcornea-corectopia-macular hypoplasia syndrome is an extremely rare eye condition that has been described in medical literature but is now classified as 'obsolete' in disease databases, meaning it may have been reclassified or merged with another condition. The syndrome was originally described as a combination of three eye problems: microcornea (an unusually small cornea, which is the clear front part of the eye), corectopia (a displaced or off-center pupil), and macular hypoplasia (underdevelopment of the macula, the central part of the retina responsible for sharp, detailed vision). Together, these features can lead to significant vision problems, including reduced visual sharpness and difficulty with tasks that require detailed sight, such as reading or recognizing faces. Because this condition is so rare and has been reclassified, there is very limited information about its full range of symptoms, underlying genetic cause, and treatment options. Management has generally focused on addressing the vision problems through corrective lenses, low-vision aids, and regular monitoring by eye specialists. Patients who believe they may have this combination of eye findings should seek evaluation by an ophthalmologist and a clinical geneticist to determine the most current diagnosis and appropriate care plan.
Key symptoms:
Unusually small cornea (front of the eye)Off-center or displaced pupilUnderdeveloped central retina (macula)Reduced sharpness of visionDifficulty seeing fine detailsPossible sensitivity to lightNystagmus (involuntary eye movements)Difficulty with reading or close-up tasks
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 OBSOLETE: Microcornea-corectopia-macular hypoplasia syndrome.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Microcornea-corectopia-macular hypoplasia 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 OBSOLETE: Microcornea-corectopia-macular hypoplasia 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.What is the current best diagnosis for my child's combination of eye findings?,How much vision loss should we expect, and can it get worse over time?,Would genetic testing help us understand the cause and guide treatment?,What low-vision aids or therapies would be most helpful right now?,Are there any complications we should watch for, such as glaucoma?,Should other family members be examined?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about OBSOLETE: Microcornea-corectopia-macular hypoplasia syndrome
What is OBSOLETE: Microcornea-corectopia-macular hypoplasia syndrome?
Microcornea-corectopia-macular hypoplasia syndrome is an extremely rare eye condition that has been described in medical literature but is now classified as 'obsolete' in disease databases, meaning it may have been reclassified or merged with another condition. The syndrome was originally described as a combination of three eye problems: microcornea (an unusually small cornea, which is the clear front part of the eye), corectopia (a displaced or off-center pupil), and macular hypoplasia (underdevelopment of the macula, the central part of the retina responsible for sharp, detailed vision). Tog
How is OBSOLETE: Microcornea-corectopia-macular hypoplasia syndrome inherited?
OBSOLETE: Microcornea-corectopia-macular hypoplasia syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: Microcornea-corectopia-macular hypoplasia syndrome typically begin?
Typical onset of OBSOLETE: Microcornea-corectopia-macular hypoplasia syndrome is neonatal. Age of onset can vary across affected individuals.