Living with Vitelliform macular dystrophy 2
A slowly progressing eye condition (Best disease) that blurs and distorts central vision, usually starting in childhood or the teen years.
Understanding Vitelliform macular dystrophy 2
People first have normal vision, then central vision gets blurrier and distorted (metamorphopsia). Side vision is not affected. It usually starts in childhood or the teen years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Distorted vision (metamorphopsia)
- Decreased central vision
- Color vision differences
- Swelling-like changes in 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 BEST1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Foundation Fighting Blindness may keep lists of experts for this condition.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Foundation Fighting Blindness
- 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 Foundation Fighting Blindness and other patient organizations
- 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
It is typically caused by changes in the BEST1 gene. It is usually autosomal dominant, though autosomal recessive cases have been reported, and in a few cases the cause is unknown.
Also known as: best disease; best macular dystrophy; best vitelliform macular dystrophy; best vitelliform macular dystrophy, multifocal; best1 retinopathy; bmd
Patient organizations
- Foundation Fighting BlindnessVitelliform macular dystrophy 2 · United States
- BrightFocus FoundationVitelliform macular dystrophy 2 · United States
- Macular Degeneration FoundationVitelliform macular dystrophy 2 · United States
- Prevent Blindness AmericaVitelliform macular dystrophy 2 · United States
You are more than your diagnosis
Perspectives from people navigating life with Vitelliform macular dystrophy 2.
Explore research for Vitelliform macular dystrophy 2
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