Overview
Congenital cataract-anterior segment dysgenesis syndrome is a rare inherited eye condition that is present from birth. It combines two main problems: cataracts (clouding of the lens inside the eye) and abnormal development of the front part of the eye, called the anterior segment. The anterior segment includes structures like the cornea (the clear front window of the eye), the iris (the colored ring), and the drainage channels that control eye pressure. When these structures do not form correctly, it can lead to serious vision problems from a very early age. Babies born with this condition may have cloudy lenses that block light from reaching the back of the eye, which can prevent normal vision from developing. They may also have an unusually small eye, an irregular iris, or problems with eye pressure that can lead to glaucoma. Because the brain learns to see during the first years of life, early treatment is very important to give children the best chance at useful vision. Treatment usually involves surgery to remove the cloudy lens, followed by glasses, contact lenses, or an artificial lens implant. Patching the stronger eye may be needed to encourage the weaker eye to develop. Glaucoma, if present, may require eye drops, laser treatment, or additional surgery. Lifelong follow-up with an eye specialist is essential.
Also known as:
Key symptoms:
Cloudy or white appearance in the pupil of one or both eyesPoor vision or vision loss from birthAbnormal development of the front part of the eyeUnusually small eyes (microphthalmia)Irregular or misshapen irisElevated eye pressure (glaucoma)Sensitivity to lightInvoluntary eye movements (nystagmus)Lazy eye (amblyopia) due to poor visual inputClouding or haziness of the cornea
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Congenital cataract-anterior segment dysgenesis syndrome.
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Specialists
View all specialists →No specialists are currently listed for Congenital cataract-anterior segment dysgenesis 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 Congenital cataract-anterior segment dysgenesis 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.Which specific genes are most likely causing this condition in my child, and should we do genetic testing for the whole family?,How soon does my child need surgery, and what are the risks of waiting?,Will my child need an artificial lens implant now or later, and what are the pros and cons of each approach?,How likely is it that my child will develop glaucoma, and how will we monitor for it?,What vision level can we realistically hope for with treatment, and what will my child be able to do independently?,What educational and low vision support services should we connect with now?,Are there any clinical trials or new treatments we should know about?
Common questions about Congenital cataract-anterior segment dysgenesis syndrome
What is Congenital cataract-anterior segment dysgenesis syndrome?
Congenital cataract-anterior segment dysgenesis syndrome is a rare inherited eye condition that is present from birth. It combines two main problems: cataracts (clouding of the lens inside the eye) and abnormal development of the front part of the eye, called the anterior segment. The anterior segment includes structures like the cornea (the clear front window of the eye), the iris (the colored ring), and the drainage channels that control eye pressure. When these structures do not form correctly, it can lead to serious vision problems from a very early age. Babies born with this condition ma
At what age does Congenital cataract-anterior segment dysgenesis syndrome typically begin?
Typical onset of Congenital cataract-anterior segment dysgenesis syndrome is neonatal. Age of onset can vary across affected individuals.