Overview
Optic atrophy-intellectual disability syndrome (Orphanet code 401777) is a very rare genetic condition that affects both vision and brain development. In this syndrome, the optic nerves — the cables that carry visual information from the eyes to the brain — gradually weaken and waste away, a process called optic atrophy. This leads to progressive vision loss that can range from mild to severe. At the same time, individuals with this condition experience intellectual disability, meaning they may have difficulty with learning, reasoning, and everyday problem-solving skills. The degree of intellectual disability can vary from mild to more significant. Because this is an extremely rare syndrome, the medical understanding of it is still evolving. Some affected individuals may also have additional neurological features such as delayed motor development or other brain-related symptoms. The condition typically becomes apparent in childhood when parents or doctors notice vision problems alongside developmental delays. There is currently no cure for optic atrophy-intellectual disability syndrome. Treatment focuses on managing symptoms and supporting the individual's development. This may include vision aids, special education services, occupational therapy, speech therapy, and other supportive interventions. Regular monitoring by eye specialists and neurologists is important to track changes over time and adjust care as needed.
Also known as:
Key symptoms:
Progressive vision lossPale or damaged optic nerves (optic atrophy)Intellectual disabilityDelayed developmental milestonesDifficulty with learning and school performanceReduced visual sharpnessProblems with color visionDelayed speech or language developmentDifficulty with coordination or motor skills
Clinical phenotype terms (39)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Optic atrophy-intellectual disability syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Optic atrophy-intellectual disability syndrome at this time.
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Rare Disease Specialist
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 Optic atrophy-intellectual disability syndrome.
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Caregiver Resources
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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 expected rate of vision loss for my child, and how will it be monitored?,What genetic testing should be done, and will it help clarify the diagnosis or prognosis?,What therapies and educational supports do you recommend starting now?,Are there any clinical trials or emerging treatments we should know about?,Should other family members be tested for this condition?,What specialists should be part of our care team?,How can we best prepare for changes in vision and learning needs over time?
Common questions about Optic atrophy-intellectual disability syndrome
What is Optic atrophy-intellectual disability syndrome?
Optic atrophy-intellectual disability syndrome (Orphanet code 401777) is a very rare genetic condition that affects both vision and brain development. In this syndrome, the optic nerves — the cables that carry visual information from the eyes to the brain — gradually weaken and waste away, a process called optic atrophy. This leads to progressive vision loss that can range from mild to severe. At the same time, individuals with this condition experience intellectual disability, meaning they may have difficulty with learning, reasoning, and everyday problem-solving skills. The degree of intelle
At what age does Optic atrophy-intellectual disability syndrome typically begin?
Typical onset of Optic atrophy-intellectual disability syndrome is childhood. Age of onset can vary across affected individuals.
Which specialists treat Optic atrophy-intellectual disability syndrome?
2 specialists and care centers treating Optic atrophy-intellectual disability syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.