Overview
Genetic optic atrophy is a group of inherited conditions that damage the optic nerve, which is the nerve that carries visual information from the eye to the brain. When this nerve is damaged, it gradually wastes away (atrophies), leading to vision loss. The most common form is called Dominant Optic Atrophy (also known as Kjer disease), which is typically caused by changes in the OPA1 gene. Another well-known form is Leber Hereditary Optic Neuropathy (LHON), which is caused by changes in mitochondrial DNA. The main symptom is a painless, progressive loss of vision that usually affects both eyes. People may notice that colors look washed out or that their central vision becomes blurry. The severity can vary widely, even among members of the same family — some people have mild vision problems while others may become legally blind. Vision loss often begins in childhood for dominant optic atrophy, while LHON typically affects young adults. There is currently no cure for most forms of genetic optic atrophy. Treatment focuses on maximizing remaining vision through low-vision aids, occupational therapy, and supportive care. For LHON specifically, a medication called idebenone (Raxone) has been approved in some countries and may help preserve or recover some vision if started early. Gene therapy research is also underway and offers hope for future treatments. Regular monitoring by an eye specialist is essential to track changes in vision and adjust support as needed.
Key symptoms:
Gradual painless vision lossBlurry central visionDifficulty seeing colors (color vision problems)Pale or whitish appearance of the optic nerveReduced visual sharpness in both eyesBlind spots in the center of visionDifficulty reading or recognizing facesSensitivity to bright lightProblems with depth perceptionDifficulty seeing in low light conditions
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Genetic optic atrophy.
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Specialists
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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
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.What specific type of genetic optic atrophy do I have, and which gene is involved?,How is my vision likely to change over time, and is there anything I can do to slow the progression?,Are there any clinical trials or new treatments I should know about, including gene therapy?,Should my family members be tested, and what is the chance of passing this to my children?,What low-vision aids and rehabilitation services would you recommend for me?,Are there any medications, supplements, or lifestyle changes that could help protect my remaining vision?,How often should I have follow-up eye exams to monitor my condition?
Common questions about OBSOLETE: Genetic optic atrophy
What is OBSOLETE: Genetic optic atrophy?
Genetic optic atrophy is a group of inherited conditions that damage the optic nerve, which is the nerve that carries visual information from the eye to the brain. When this nerve is damaged, it gradually wastes away (atrophies), leading to vision loss. The most common form is called Dominant Optic Atrophy (also known as Kjer disease), which is typically caused by changes in the OPA1 gene. Another well-known form is Leber Hereditary Optic Neuropathy (LHON), which is caused by changes in mitochondrial DNA. The main symptom is a painless, progressive loss of vision that usually affects both eye