Overview
Autosomal recessive optic atrophy, OPA9 type (also sometimes written as AR-OPA9) is a rare inherited condition that primarily affects the optic nerves — the nerves that carry visual information from the eyes to the brain. When these nerves are damaged or wasted away (a process called optic atrophy), the brain cannot receive clear signals from the eyes, leading to vision loss. This condition is caused by changes (mutations) in both copies of a specific gene that a person inherits from each parent. The main symptom is a gradual loss of central vision, often starting in childhood or early adult life. People with this condition may notice that their vision becomes blurry, colors look washed out, or they have difficulty seeing fine details. The vision loss is usually in both eyes. In some cases, additional neurological features may also be present. Important note: This disease entry is marked as 'OBSOLETE' in the Orphanet rare disease database. This means the classification may have been updated, merged with another condition, or reclassified. Patients and families should speak with a clinical geneticist or ophthalmologist for the most current information about their diagnosis. There is currently no cure, and treatment focuses on managing symptoms and supporting vision.
Key symptoms:
Gradual loss of central vision in both eyesReduced sharpness or clarity of visionDifficulty telling colors apart (color vision problems)Pale or washed-out appearance of the optic nerve seen on eye examSensitivity to bright lightDifficulty reading or seeing fine detailsPossible additional neurological symptoms depending on the specific gene involved
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Autosomal recessive optic atrophy, OPA9 type.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Autosomal recessive optic atrophy, OPA9 type.
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 OBSOLETE: Autosomal recessive optic atrophy, OPA9 type.
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.Is the OPA9 classification still the correct diagnosis for my condition, or has it been updated to a different name or gene?,Which specific gene mutation has been found in my case, and what does that mean for my prognosis?,How quickly is my vision likely to change, and how often should I have eye check-ups?,Are there any clinical trials or experimental treatments I might be eligible for?,What low vision aids or rehabilitation services do you recommend?,Should other members of my family be tested for this condition?,Are there any lifestyle changes or supplements that might help protect my remaining vision?
Common questions about OBSOLETE: Autosomal recessive optic atrophy, OPA9 type
What is OBSOLETE: Autosomal recessive optic atrophy, OPA9 type?
Autosomal recessive optic atrophy, OPA9 type (also sometimes written as AR-OPA9) is a rare inherited condition that primarily affects the optic nerves — the nerves that carry visual information from the eyes to the brain. When these nerves are damaged or wasted away (a process called optic atrophy), the brain cannot receive clear signals from the eyes, leading to vision loss. This condition is caused by changes (mutations) in both copies of a specific gene that a person inherits from each parent. The main symptom is a gradual loss of central vision, often starting in childhood or early adult
How is OBSOLETE: Autosomal recessive optic atrophy, OPA9 type inherited?
OBSOLETE: Autosomal recessive optic atrophy, OPA9 type follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.