Overview
Sorsby fundus dystrophy (SFD), also sometimes called Sorsby's pseudoinflammatory macular dystrophy, is a rare inherited eye disease that affects the retina — the light-sensitive layer at the back of the eye. It is caused by changes (mutations) in the TIMP3 gene, which plays an important role in keeping the tissues of the eye healthy and balanced. Over time, abnormal deposits build up under the retina, and new, leaky blood vessels can grow in the wrong places, damaging the central part of vision. The disease usually begins in a person's 40s or 50s, though it can start earlier or later. One of the first signs is difficulty seeing in dim light or at night, often called night blindness. As the disease progresses, central vision — the sharp vision needed for reading, recognizing faces, and driving — gradually worsens in both eyes. Side (peripheral) vision is usually preserved, so most people do not become completely blind, but daily tasks that require sharp central vision become very difficult. There is currently no cure for Sorsby fundus dystrophy. However, treatments used for a related condition called wet age-related macular degeneration — specifically anti-VEGF injections given into the eye — can help slow or reduce damage from abnormal blood vessel growth. Vitamin A supplementation has also been explored. Research into gene therapy and other targeted treatments is ongoing, giving hope for better options in the future.
Key symptoms:
Difficulty seeing in dim light or darkness (night blindness)Blurry or distorted central visionStraight lines appearing wavy or bentA dark or blank spot in the center of visionColors appearing less vivid or washed outDifficulty reading fine printTrouble recognizing facesSensitivity to bright lightGradual loss of sharp vision in both eyesAbnormal blood vessel growth under the retina (choroidal neovascularization)
Clinical phenotype terms (17)— 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 Sorsby fundus dystrophy.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Sorsby fundus dystrophy at this time.
New trials open frequently. Follow this disease to get notified.
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 Sorsby fundus dystrophy.
Community
No community posts yet. Be the first to share your experience with Sorsby fundus dystrophy.
Start the conversation →Latest news about Sorsby fundus dystrophy
No recent news articles for Sorsby fundus dystrophy.
Follow this condition to be notified when news becomes available.
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 mutation do I have in the TIMP3 gene, and what does that mean for how quickly my vision might change?,Should my children or siblings be tested for this condition, and at what age?,Am I a candidate for anti-VEGF injections, and how often would I need them?,Are there any clinical trials for Sorsby fundus dystrophy that I might be eligible for?,What signs should prompt me to call you urgently between scheduled appointments?,Can you refer me to a low vision rehabilitation specialist to help me adapt to changes in my vision?,Is there anything I can do — such as vitamin supplements or lifestyle changes — to help protect my remaining vision?
Common questions about Sorsby fundus dystrophy
What is Sorsby fundus dystrophy?
Sorsby fundus dystrophy (SFD), also sometimes called Sorsby's pseudoinflammatory macular dystrophy, is a rare inherited eye disease that affects the retina — the light-sensitive layer at the back of the eye. It is caused by changes (mutations) in the TIMP3 gene, which plays an important role in keeping the tissues of the eye healthy and balanced. Over time, abnormal deposits build up under the retina, and new, leaky blood vessels can grow in the wrong places, damaging the central part of vision. The disease usually begins in a person's 40s or 50s, though it can start earlier or later. One of
How is Sorsby fundus dystrophy inherited?
Sorsby fundus dystrophy follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Sorsby fundus dystrophy typically begin?
Typical onset of Sorsby fundus dystrophy is adult. Age of onset can vary across affected individuals.
Which specialists treat Sorsby fundus dystrophy?
1 specialists and care centers treating Sorsby fundus dystrophy are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.