Living with Sorsby fundus dystrophy
A rare inherited eye condition that damages the center of the retina and gradually reduces vision.
Understanding Sorsby fundus dystrophy
It usually starts between the third and sixth decades of life. The retina thins and can detach. Vision loss begins in the center of sight, then affects side vision. Night blindness can occur, and abnormal new blood vessels may grow under the retina.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Loss of central vision
- Night blindness
- Blind spot in the center of vision
- Deposits under the retina
- Abnormal new blood vessels in the eye
- Yellow-white spots on the macula
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in TIMP3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD lists changes in the TIMP3 gene. It is inherited in an autosomal dominant pattern, meaning one changed copy of the gene is enough.
Also known as: fundus dystrophy, pseudoinflammatory, of sorsby; hemorrhagic macular dystrophy; macular dystrophy, hemorrhagic; pseudoinflammatory fundus dystrophy of sorsby; sfd; sorsby fundus dystrophy, lavia type
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Sorsby fundus dystrophy.
Explore research for Sorsby fundus dystrophy
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