Living with Fundus dystrophy, pseudoinflammatory, recessive form
An eye disease that affects the retina, with a recessive type that starts earlier and can cause rapid vision loss.
Understanding Fundus dystrophy, pseudoinflammatory, recessive form
There are two types, dominant and recessive. The recessive type is less common and usually starts earlier. It can cause rapid vision loss and damage to the outer edges of the retina. Both types can cause problems with color vision and with seeing in the dark.
Signs & symptoms
GARD doesn't list a separate symptom list. Its summary describes:
- Rapid loss of vision
- Damage to the outer edges of the retina
- Color vision problems
- Trouble seeing in the dark
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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
Both types are caused by a change in the TIMP3 gene. The recessive type is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: pfd, finnish 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 Fundus dystrophy, pseudoinflammatory, recessive form.
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