Overview
HERNS syndrome stands for Hereditary Endotheliopathy with Retinopathy, Nephropathy, and Stroke. It is a very rare inherited disease that affects the small blood vessels in several parts of the body, especially in the eyes, kidneys, and brain. The disease is caused by changes (mutations) in the TREX1 gene, which normally helps the body break down and clear out DNA fragments from cells. When this gene does not work properly, DNA debris builds up and triggers inflammation that damages blood vessel walls over time. People with HERNS syndrome typically start noticing problems in early to mid-adulthood. The most common early signs involve the eyes, where damaged blood vessels in the retina can cause blurry or reduced vision. Kidney problems may develop, leading to protein leaking into the urine. Brain involvement can cause strokes, psychiatric symptoms, and thinking or memory difficulties. The combination of these three main areas — eyes, kidneys, and brain — is what gives the syndrome its name. There is currently no cure for HERNS syndrome. Treatment focuses on managing symptoms, protecting the kidneys, controlling blood pressure, and reducing stroke risk. Because the disease is so rare, treatment plans are largely based on expert opinion and experience with similar conditions. Regular monitoring by a team of specialists is very important to catch complications early and slow the progression of damage.
Key symptoms:
Vision loss or blurry vision due to retinal blood vessel damageFloaters or flashing lights in the visionProtein in the urine (a sign of kidney damage)High blood pressure related to kidney problemsStroke or stroke-like episodesHeadachesMemory problems or difficulty thinking clearlyMood changes or psychiatric symptoms such as depression or psychosisWeakness or numbness on one side of the body after a strokeGradual decline in kidney function
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Adult
Begins in adulthood (age 18 or older)
Treatments
No FDA-approved treatments are currently listed for HERNS syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for HERNS syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for HERNS syndrome.
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 HERNS syndrome.
Community
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Start the conversation →Latest news about HERNS syndrome
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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 organs are currently affected in my case, and how severe is the damage so far?,Should my close family members be tested for the TREX1 mutation?,What medications do you recommend to protect my kidneys and reduce my stroke risk?,How often should I have eye exams, kidney tests, and brain MRI scans?,Are there any clinical trials or experimental treatments I might be eligible for?,What warning signs should prompt me to go to the emergency room immediately?,Can you refer me to a specialist center with experience in TREX1-related diseases?
Common questions about HERNS syndrome
What is HERNS syndrome?
HERNS syndrome stands for Hereditary Endotheliopathy with Retinopathy, Nephropathy, and Stroke. It is a very rare inherited disease that affects the small blood vessels in several parts of the body, especially in the eyes, kidneys, and brain. The disease is caused by changes (mutations) in the TREX1 gene, which normally helps the body break down and clear out DNA fragments from cells. When this gene does not work properly, DNA debris builds up and triggers inflammation that damages blood vessel walls over time. People with HERNS syndrome typically start noticing problems in early to mid-adult
How is HERNS syndrome inherited?
HERNS syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does HERNS syndrome typically begin?
Typical onset of HERNS syndrome is adult. Age of onset can vary across affected individuals.