Living with Autosomal recessive bestrophinopathy
A rare inherited eye condition that causes loss of central vision.
Understanding Autosomal recessive bestrophinopathy
Central vision loss happens in the first two decades of life. The retina and the tissue behind it respond to light in an abnormal way. This is measured by two eye tests, the electrooculogram (EOG) and the electroretinogram (ERG).
Signs & symptoms
GARD doesn't list specific symptoms for this condition. The summary describes these features:
- Loss of central vision
- Abnormal EOG test results
- Abnormal ERG test results
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.
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
It is caused by changes in the BEST1 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: bestrophinopathy; retinopathy burgess black type; retinopathy, burgess-black 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 Autosomal recessive bestrophinopathy.
Explore research for Autosomal recessive bestrophinopathy
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