Overview
Congenital retinal arteriovenous communication (also known as congenital retinal arteriovenous malformation, or retinal racemose hemangioma) is a rare eye condition that is present from birth. In this condition, there are abnormal direct connections between the arteries and veins in the retina — the light-sensitive tissue at the back of the eye. Normally, blood flows from arteries through tiny capillaries before reaching veins, but in this condition, blood bypasses the capillaries and flows directly from arteries into veins. These abnormal blood vessel connections can vary widely in severity. In mild cases, a person may have no symptoms at all and the condition is found only during a routine eye exam. In more severe cases, the enlarged, twisted blood vessels can affect vision by damaging the retina or causing complications such as bleeding, blood vessel blockage, or swelling. When this condition occurs along with similar blood vessel malformations in the brain and face, it may be part of a broader syndrome called Wyburn-Mason syndrome (also known as Bonnet-Dechaume-Blanc syndrome). There is currently no cure for this condition. Treatment is generally focused on monitoring the eyes and managing any complications that arise. In many cases, especially mild ones, no treatment is needed. For more severe cases, laser therapy or other interventions may be considered, though treatment options remain limited.
Also known as:
Key symptoms:
Abnormally enlarged and twisted blood vessels in the retinaDecreased vision or blurry visionVision loss in one eyeNo symptoms in mild cases (found incidentally during eye exam)Bleeding in the retinaSwelling of the retinaBlockage of retinal blood vesselsVisual field defects (blind spots)Possible associated brain blood vessel malformations if part of Wyburn-Mason syndrome
Sporadic
Usually appears on its own, not inherited from a parent
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
1 availableTOBRADEX ST
They are also indicated in chronic anterior uveitis and corneal injury from chemical, radiation or thermal burns, or penetration of foreign bodies.
Clinical Trials
View all trials with filters →No actively recruiting trials found for Congenital retinal arteriovenous communication at this time.
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Specialists
View all specialists →No specialists are currently listed for Congenital retinal arteriovenous communication.
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 Congenital retinal arteriovenous communication.
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Questions for your doctor
Bring these to your next appointment
- Q1.How severe is the arteriovenous malformation in my eye, and what grade is it?,Is my vision at risk of getting worse over time?,Should I be screened for blood vessel malformations in the brain (Wyburn-Mason syndrome)?,How often do I need follow-up eye exams?,Are there any activities or situations I should avoid to protect my vision?,What signs or symptoms should prompt me to seek emergency care?,Are there any new treatments or clinical trials available for this condition?
Common questions about Congenital retinal arteriovenous communication
What is Congenital retinal arteriovenous communication?
Congenital retinal arteriovenous communication (also known as congenital retinal arteriovenous malformation, or retinal racemose hemangioma) is a rare eye condition that is present from birth. In this condition, there are abnormal direct connections between the arteries and veins in the retina — the light-sensitive tissue at the back of the eye. Normally, blood flows from arteries through tiny capillaries before reaching veins, but in this condition, blood bypasses the capillaries and flows directly from arteries into veins. These abnormal blood vessel connections can vary widely in severity.
How is Congenital retinal arteriovenous communication inherited?
Congenital retinal arteriovenous communication follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Congenital retinal arteriovenous communication typically begin?
Typical onset of Congenital retinal arteriovenous communication is neonatal. Age of onset can vary across affected individuals.