Overview
Infantile cerebellar-retinal degeneration (ICRD) is an extremely rare genetic disorder that affects the brain and eyes beginning in infancy. This condition is also sometimes referred to as ACO2-related infantile cerebellar-retinal degeneration, as it is caused by mutations in the ACO2 gene. The disease primarily damages the cerebellum, which is the part of the brain responsible for coordinating movement and balance, and the retina, which is the light-sensing tissue at the back of the eye. Babies with this condition typically appear normal at birth but begin showing signs of developmental problems within the first months of life. Key symptoms include progressive vision loss, difficulty with movement and coordination (ataxia), seizures, intellectual disability, and failure to reach normal developmental milestones. Brain imaging often shows shrinkage (atrophy) of the cerebellum. There is currently no cure for infantile cerebellar-retinal degeneration. Treatment is supportive and focuses on managing symptoms such as seizures, providing physical and occupational therapy, and addressing vision problems. The condition is progressive, meaning symptoms tend to worsen over time. Because it is so rare, research into new treatments is limited, and care is best coordinated by a team of specialists including neurologists, ophthalmologists, and geneticists.
Key symptoms:
Progressive vision lossPoor coordination and balance (ataxia)SeizuresIntellectual disabilityDelayed developmental milestonesInvoluntary eye movements (nystagmus)Low muscle tone (floppiness)Difficulty feedingShrinkage of the cerebellum visible on brain scansRetinal degenerationDifficulty sitting or walking independentlySpeech delay or absence of speech
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Infantile cerebellar-retinal degeneration.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Infantile cerebellar-retinal degeneration at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Infantile cerebellar-retinal degeneration.
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 Infantile cerebellar-retinal degeneration.
Community
No community posts yet. Be the first to share your experience with Infantile cerebellar-retinal degeneration.
Start the conversation →Latest news about Infantile cerebellar-retinal degeneration
No recent news articles for Infantile cerebellar-retinal degeneration.
Follow this condition to be notified when news becomes available.
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 specific genetic mutation does my child have, and what does it mean for their prognosis?,What seizure medications are best suited for my child, and what side effects should I watch for?,How often should my child have eye exams and brain imaging?,What therapies (physical, occupational, speech) are recommended, and how often?,Are there any clinical trials or research studies my child might be eligible for?,What feeding and nutritional support does my child need now and in the future?,What are the chances of having another child with this condition, and what are our options for family planning?
Common questions about Infantile cerebellar-retinal degeneration
What is Infantile cerebellar-retinal degeneration?
Infantile cerebellar-retinal degeneration (ICRD) is an extremely rare genetic disorder that affects the brain and eyes beginning in infancy. This condition is also sometimes referred to as ACO2-related infantile cerebellar-retinal degeneration, as it is caused by mutations in the ACO2 gene. The disease primarily damages the cerebellum, which is the part of the brain responsible for coordinating movement and balance, and the retina, which is the light-sensing tissue at the back of the eye. Babies with this condition typically appear normal at birth but begin showing signs of developmental prob
How is Infantile cerebellar-retinal degeneration inherited?
Infantile cerebellar-retinal degeneration follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Infantile cerebellar-retinal degeneration typically begin?
Typical onset of Infantile cerebellar-retinal degeneration is infantile. Age of onset can vary across affected individuals.