BEST1-related dominant retinopathy: genes and variants
BEST1-related dominant retinopathy is linked to 1 analyzed protein (BEST1). 3 DNA variants are known to cause it; 5 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to BEST1-related dominant retinopathy
BEST1: Bestrophin-1
It helps regulate ion transport and fluid homeostasis across the retinal pigment epithelium. Pathogenic variants cause bestrophinopathies including Best vitelliform macular dystrophy, autosomal recessive bestrophinopathy, and some retinitis pigmentosa phenotypes.
3 disease-causing and 5 uncertain variants in BEST1 are linked to BEST1-related dominant retinopathy.
Known disease-causing variants in BEST1-related dominant retinopathy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| BEST1 P297S | 297 | Cytoplasmic | Disease-causing (★★) |
| BEST1 R141H | 141 | Cytoplasmic | Disease-causing (★★) |
| BEST1 A195V | 195 | Cytoplasmic | Disease-causing (★★) |
Same protein, different disease
- Vitelliform macular dystrophy 2 is also caused by BEST1 variants; they fall mostly in different places as the BEST1-related dominant retinopathy variants (39 disease-causing).
- Autosomal recessive bestrophinopathy is also caused by BEST1 variants; they fall mostly in different places as the BEST1-related dominant retinopathy variants (22 disease-causing).
- Autosomal dominant vitreoretinochoroidopathy is also caused by BEST1 variants; they fall mostly in different places as the BEST1-related dominant retinopathy variants (9 disease-causing).
- Retinal disorder is also caused by BEST1 variants; they fall mostly in different places as the BEST1-related dominant retinopathy variants (4 disease-causing).
Diseases related to BEST1-related dominant retinopathy
- Retinitis pigmentosa, also linked to BEST1
- Vitelliform macular dystrophy 2, also linked to BEST1
- Autosomal recessive bestrophinopathy, also linked to BEST1
- Retinal disorder, also linked to BEST1
- Autosomal dominant vitreoretinochoroidopathy, also linked to BEST1
- Isolated macular dystrophy, also linked to BEST1
Frequently asked questions
Which genes are linked to BEST1-related dominant retinopathy?
In CATVariant, BEST1-related dominant retinopathy is linked to 1 analyzed protein: BEST1 (Bestrophin-1).
How many genetic variants are linked to BEST1-related dominant retinopathy?
8 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 5 are of uncertain significance or have conflicting reports.
Which uncertain variants in BEST1-related dominant retinopathy look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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