autosomal recessive bestrophinopathy
Findings
No curated finding names autosomal recessive bestrophinopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG).
Definition from the Mondo Disease Ontology (MONDO:0012733), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
5 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased light- and dark-adapted electroretinogram amplitudeHPOHP:0000654
- HypermetropiaHPOHP:0000540
- Reduced visual acuityHPOHP:0007663
- Retinal flecksHPOHP:0012045
- Retinal pigment epithelial atrophyHPOHP:0007722
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- BEST1HGNC:12703
- Definitive · Ambry Genetics · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: autosomal recessive bestrophinopathy
- Also called
- retinopathy, Burgess-Black type