Overview
Hereditary vascular retinopathy (HVR) is a rare inherited condition that affects the tiny blood vessels in the retina — the light-sensitive layer at the back of the eye. Over time, these blood vessels become damaged, leading to problems with vision that can gradually worsen. The condition is sometimes called hereditary endotheliopathy, retinopathy, nephropathy, and stroke (HERNS) when it also affects the kidneys and brain, or it may be referred to as cerebroretinal vasculopathy (CRV) or hereditary systemic angiopathy. These names reflect the fact that in some people, the disease goes beyond the eyes and can affect blood vessels in the brain and kidneys as well. The main symptoms involve progressive vision loss, which can include blurry vision, blind spots, and difficulty seeing in low light. Some people also experience strokes or stroke-like episodes, migraines, and kidney problems, depending on how widely the disease affects the body's blood vessels. Symptoms usually begin in adulthood, though the age of onset can vary. There is currently no cure for hereditary vascular retinopathy. Treatment focuses on managing symptoms, monitoring vision and organ function, and reducing the risk of complications like stroke. Regular follow-up with eye specialists, neurologists, and kidney doctors is important. Research into this condition is ongoing, and genetic testing can help confirm the diagnosis and guide family planning decisions.
Key symptoms:
Gradual loss of visionBlurry or distorted visionBlind spots in the visual fieldDifficulty seeing in dim lightFloaters or flashes of lightStroke or stroke-like episodesMigraine headaches, sometimes with visual disturbancesWeakness or numbness on one side of the bodyMemory or thinking problemsProtein in the urine (a sign of kidney involvement)High blood pressure related to kidney diseaseFatigue
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)
FDA & Trial Timeline
3 eventsKodiak Sciences Inc — PHASE3
AbbVie — PHASE3
AbbVie — PHASE2, PHASE3
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Hereditary vascular retinopathy.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Hereditary vascular retinopathy at this time.
New trials open frequently. Follow this disease to get notified.
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 Hereditary vascular retinopathy.
Community
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Start the conversation →Latest news about Hereditary vascular retinopathy
Disease timeline:
New recruiting trial: A Study to Collect Data on the Use of Eylea in Babies Born Too Early Who Have a Condition of the Eye Where Blood Vessels Grow Abnormally in the Retina (Retinopathy of Prematurity)
A new clinical trial is recruiting patients for Hereditary vascular retinopathy
New recruiting trial: Imaging Retinal Vasculature in Infant Eyes
A new clinical trial is recruiting patients for Hereditary vascular retinopathy
New recruiting trial: Pivotal 2 Study of RGX-314 Gene Therapy in Participants With nAMD
A new clinical trial is recruiting patients for Hereditary vascular retinopathy
New recruiting trial: Evaluating a New Peptide Therapy for Retinal Diseases: AMD, Diabetic Retinopathy, and Dystrophies
A new clinical trial is recruiting patients for Hereditary vascular retinopathy
New recruiting trial: A Efficacy and Safety Study of Ranibizumab 10mg/ml Injection (Incepta) in Patients With Diabetic Macular Edema
A new clinical trial is recruiting patients for Hereditary vascular retinopathy
New recruiting trial: Pivotal 1 Study of ABBV-RGX-314 (Also Known as RGX-314) Gene Therapy Administered Via Subretinal Delivery One Time in Participants With nAMD
A new clinical trial is recruiting patients for Hereditary vascular retinopathy
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 affected in my case, and how will you monitor each of them?,Should my children or siblings be tested for the TREX1 gene mutation?,Are there any clinical trials or research studies I could join?,What can I do to reduce my risk of stroke?,How quickly is my vision likely to change, and what vision aids might help me?,Are there any medications or lifestyle changes that could slow the progression of this disease?,What signs should prompt me to go to the emergency room immediately?
Common questions about Hereditary vascular retinopathy
What is Hereditary vascular retinopathy?
Hereditary vascular retinopathy (HVR) is a rare inherited condition that affects the tiny blood vessels in the retina — the light-sensitive layer at the back of the eye. Over time, these blood vessels become damaged, leading to problems with vision that can gradually worsen. The condition is sometimes called hereditary endotheliopathy, retinopathy, nephropathy, and stroke (HERNS) when it also affects the kidneys and brain, or it may be referred to as cerebroretinal vasculopathy (CRV) or hereditary systemic angiopathy. These names reflect the fact that in some people, the disease goes beyond th
How is Hereditary vascular retinopathy inherited?
Hereditary vascular retinopathy follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Hereditary vascular retinopathy typically begin?
Typical onset of Hereditary vascular retinopathy is adult. Age of onset can vary across affected individuals.
Which specialists treat Hereditary vascular retinopathy?
25 specialists and care centers treating Hereditary vascular retinopathy are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.