Congenital cataract microcornea with corneal opacity

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ORPHA:289499OMIM:269400Q12.0
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Overview

Congenital cataract microcornea with corneal opacity is a rare eye condition that is present at birth. In this disease, babies are born with cataracts (clouding of the lens inside the eye), microcornea (an abnormally small cornea, which is the clear front window of the eye), and corneal opacity (a cloudy or hazy appearance of the cornea that blocks light from entering the eye properly). Together, these three problems significantly reduce vision from a very early age. The condition affects the structures at the front of the eye that are responsible for focusing light onto the retina. When the lens is cloudy (cataract) and the cornea is both small and opaque, very little clear light can reach the back of the eye, which can lead to severe visual impairment. If not treated early, the lack of clear visual input during critical periods of brain development can lead to amblyopia (lazy eye), where the brain never fully learns to process images from the affected eye. Treatment typically involves early surgical removal of the cataracts, often within the first few weeks or months of life, to allow light to reach the retina during the critical window of visual development. Corneal opacity may require additional procedures such as corneal transplantation in some cases. Corrective lenses, contact lenses, or intraocular lens implants are used after cataract surgery. Ongoing vision therapy and close monitoring by eye specialists are essential throughout childhood. Despite treatment, some degree of visual impairment may persist depending on the severity of the corneal changes.

Also known as:

Key symptoms:

Cloudy or white appearance in the pupil of the eye (cataract)Abnormally small cornea (front part of the eye)Hazy or opaque cornea that looks cloudyPoor vision or blindness from birthDifficulty tracking objects or making eye contactNystagmus (involuntary shaking or wobbling of the eyes)Sensitivity to lightCrossed eyes or misaligned eyes (strabismus)Lazy eye (amblyopia)Small eye size overall (microphthalmos) in some casesDifficulty with depth perception

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Congenital cataract microcornea with corneal opacity.

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No actively recruiting trials found for Congenital cataract microcornea with corneal opacity at this time.

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No specialists are currently listed for Congenital cataract microcornea with corneal opacity.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Congenital cataract microcornea with corneal opacity.

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Community

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Caregiver Resources

NORD Caregiver Resources

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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 are the cataracts and corneal opacity, and how much are they affecting my child's vision?,When should cataract surgery be performed, and what are the risks and expected outcomes?,Will my child need a corneal transplant, and if so, when is the best time?,What is the risk of developing glaucoma after surgery, and how will it be monitored?,Should we pursue genetic testing, and what would the results mean for our family?,What early intervention and vision rehabilitation services should we start now?,What is the long-term visual outlook for my child with this condition?

Common questions about Congenital cataract microcornea with corneal opacity

What is Congenital cataract microcornea with corneal opacity?

Congenital cataract microcornea with corneal opacity is a rare eye condition that is present at birth. In this disease, babies are born with cataracts (clouding of the lens inside the eye), microcornea (an abnormally small cornea, which is the clear front window of the eye), and corneal opacity (a cloudy or hazy appearance of the cornea that blocks light from entering the eye properly). Together, these three problems significantly reduce vision from a very early age. The condition affects the structures at the front of the eye that are responsible for focusing light onto the retina. When the

At what age does Congenital cataract microcornea with corneal opacity typically begin?

Typical onset of Congenital cataract microcornea with corneal opacity is neonatal. Age of onset can vary across affected individuals.