Overview
Familial drusen, also known as Doyne honeycomb retinal dystrophy, Malattia Leventinese, or autosomal dominant drusen, is a rare inherited eye condition that affects the retina — the light-sensitive layer at the back of your eye. The disease causes small yellowish-white deposits called drusen to build up under the retina, particularly in the central area called the macula. These deposits interfere with how the retina works and can damage the cells responsible for sharp, detailed vision. Most people with familial drusen begin to notice symptoms in their 20s to 40s, though the timing can vary. Early on, you might notice that straight lines look wavy, or that your central vision seems blurry or distorted. Over time, the drusen deposits can grow and spread, and some people develop more serious complications like abnormal blood vessel growth under the retina (called choroidal neovascularization), which can cause rapid vision loss. Side (peripheral) vision is usually preserved. There is currently no cure for familial drusen. Treatment focuses on monitoring the eyes regularly and, if complications like abnormal blood vessels develop, using anti-VEGF injections (such as ranibizumab or bevacizumab) to slow further damage. Low vision aids and lifestyle adjustments can help people manage daily tasks. Research into gene therapy and other targeted treatments is ongoing, giving hope for better options in the future.
Also known as:
Key symptoms:
Blurry or distorted central visionStraight lines appearing wavy or bent (metamorphopsia)Difficulty reading fine printReduced ability to see fine detailYellowish-white spots (drusen) visible on eye examinationGradual worsening of central vision over timeDifficulty recognizing facesSensitivity to bright lightDifficulty adapting from bright to dim lightIn advanced cases, a blind spot in the center of vision
Clinical phenotype terms (20)— hover any for plain English
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 Familial drusen.
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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
No travel grants are currently matched to Familial drusen.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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.How advanced is my condition right now, and how quickly do you expect it to progress?,Should I have genetic testing, and should my family members be tested too?,How often should I come in for monitoring, and what signs should make me call sooner?,Should I be using an Amsler grid at home, and how do I use it correctly?,Are there any vitamin supplements or lifestyle changes that might help slow the disease?,What are the warning signs that I need anti-VEGF injections, and how quickly would I need to start them?,Are there any clinical trials or research studies I could join?
Common questions about Familial drusen
What is Familial drusen?
Familial drusen, also known as Doyne honeycomb retinal dystrophy, Malattia Leventinese, or autosomal dominant drusen, is a rare inherited eye condition that affects the retina — the light-sensitive layer at the back of your eye. The disease causes small yellowish-white deposits called drusen to build up under the retina, particularly in the central area called the macula. These deposits interfere with how the retina works and can damage the cells responsible for sharp, detailed vision. Most people with familial drusen begin to notice symptoms in their 20s to 40s, though the timing can vary. E
How is Familial drusen inherited?
Familial drusen follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Familial drusen typically begin?
Typical onset of Familial drusen is adult. Age of onset can vary across affected individuals.