Overview
Syndromic hereditary optic neuropathy is a rare inherited condition where the optic nerves — the cables that carry visual information from the eyes to the brain — are damaged or do not work properly. Unlike isolated optic nerve diseases, the 'syndromic' part means that vision problems occur alongside other health issues affecting different parts of the body, such as the nervous system, muscles, heart, or hearing. This combination of features is what makes it a syndrome. The optic nerve damage leads to progressive vision loss, which can range from mild blurring to severe visual impairment or even legal blindness. Because this is a group of related conditions rather than a single disease, the exact symptoms, severity, and age of onset can vary widely depending on the specific genetic cause. Some people notice vision problems in childhood, while others may not experience symptoms until adulthood. Treatment is currently focused on managing symptoms and slowing progression where possible, rather than curing the underlying cause. A team of specialists — including eye doctors, neurologists, and geneticists — typically work together to provide the best care. Research into gene therapies and neuroprotective treatments is ongoing, offering hope for better options in the future.
Key symptoms:
Gradual or sudden loss of central visionDifficulty distinguishing colors, especially red and greenBlurred or cloudy visionBlind spots in the center of the visual fieldHearing loss or deafnessMuscle weakness or poor coordinationBalance problems or unsteady walkingDiabetes or problems regulating blood sugarHeart rhythm problemsIntellectual disability or learning difficultiesFatigue and low energyNerve pain or numbness in the hands and feetPsychiatric symptoms such as anxiety or depression
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 Syndromic hereditary optic neuropathy.
View clinical trials →Clinical Trials
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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
No travel grants are currently matched to Syndromic hereditary optic neuropathy.
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.Which specific gene is causing my condition, and what does that mean for my prognosis?,How quickly is my vision likely to change, and what can I do to slow it down?,Are there any clinical trials or experimental treatments I might be eligible for?,What other health problems should I be screened for given my diagnosis?,Should my family members be tested, and what are the chances of passing this on to my children?,What low vision services and rehabilitation programs are available to me?,Which specialists should I be seeing regularly, and how often?
Common questions about Syndromic hereditary optic neuropathy
What is Syndromic hereditary optic neuropathy?
Syndromic hereditary optic neuropathy is a rare inherited condition where the optic nerves — the cables that carry visual information from the eyes to the brain — are damaged or do not work properly. Unlike isolated optic nerve diseases, the 'syndromic' part means that vision problems occur alongside other health issues affecting different parts of the body, such as the nervous system, muscles, heart, or hearing. This combination of features is what makes it a syndrome. The optic nerve damage leads to progressive vision loss, which can range from mild blurring to severe visual impairment or e
Which specialists treat Syndromic hereditary optic neuropathy?
2 specialists and care centers treating Syndromic hereditary optic neuropathy are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.