Overview
Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome is a very rare inherited eye disease that affects multiple parts of the eye at the same time. It combines three main problems: a progressive breakdown of the retina (the light-sensitive layer at the back of the eye), a gap or hole in the iris (the colored part of the eye, called a coloboma), and clouding of the lens (called a congenital cataract, meaning it is present from birth). Together, these problems can cause serious vision difficulties from a very early age. The retina is responsible for capturing light and sending signals to the brain so you can see. When the retina slowly breaks down over time, as happens in retinal dystrophy, vision gradually gets worse. The iris coloboma can make it hard to control how much light enters the eye, causing sensitivity to bright light. The cataract clouds the lens, making vision blurry. Having all three of these conditions together makes this syndrome particularly challenging for affected individuals and their families. Because this condition is so rare, treatment options are limited and mostly focus on managing symptoms and making the most of remaining vision. There is currently no cure. Eye specialists, low vision therapists, and genetic counselors play important roles in supporting people with this syndrome. Early diagnosis is important so that vision aids and support services can be put in place as soon as possible.
Key symptoms:
Blurry or cloudy vision from birth due to cataractsA gap or notch in the colored part of the eye (iris coloboma)Gradual worsening of vision over time due to retinal breakdownSensitivity to bright light (photophobia)Difficulty seeing in low light or at night (night blindness)Reduced side (peripheral) visionNystagmus (involuntary, repetitive eye movements)Poor visual sharpness (reduced visual acuity)Possible complete vision loss in advanced stages
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
1 availableErbitux
in combination with irinotecan in patients who are refractory to irinotecan-based chemotherapy
Clinical Trials
View all trials with filters →No actively recruiting trials found for Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Familial progressive retinal dystrophy-iris coloboma-congenital cataract 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 Familial progressive retinal dystrophy-iris coloboma-congenital cataract 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 likely cause of my child's condition, and should we have genetic testing done?,How quickly is the retinal dystrophy expected to progress, and what vision level can we expect in the future?,When should cataract surgery be done, and what are the risks and benefits?,What low vision aids or therapies would help my child most right now?,Are there any clinical trials or research studies we could participate in?,What signs should prompt us to seek urgent eye care between appointments?,What support services are available for children with progressive vision loss in our area?
Common questions about Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
What is Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome?
Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome is a very rare inherited eye disease that affects multiple parts of the eye at the same time. It combines three main problems: a progressive breakdown of the retina (the light-sensitive layer at the back of the eye), a gap or hole in the iris (the colored part of the eye, called a coloboma), and clouding of the lens (called a congenital cataract, meaning it is present from birth). Together, these problems can cause serious vision difficulties from a very early age. The retina is responsible for capturing light a
How is Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome inherited?
Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome typically begin?
Typical onset of Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome is neonatal. Age of onset can vary across affected individuals.