Autosomal dominant vitreoretinochoroidopathy: genes and variants
Autosomal dominant vitreoretinochoroidopathy is linked to 1 analyzed protein (BEST1). 9 DNA variants are known to cause it; 13 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 Autosomal dominant vitreoretinochoroidopathy
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.
9 disease-causing and 13 uncertain variants in BEST1 are linked to Autosomal dominant vitreoretinochoroidopathy.
Where Autosomal dominant vitreoretinochoroidopathy variants cluster
- BEST1 Cytoplasmic (positions 83–237): 7 of 9 disease-causing changes, 2.9× more than its size predicts.
Known disease-causing variants in Autosomal dominant vitreoretinochoroidopathy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| BEST1 R218C | 218 | Cytoplasmic | Disease-causing (★★★★) |
| BEST1 A195V | 195 | Cytoplasmic | Disease-causing (★★) |
| BEST1 I201T | 201 | Cytoplasmic | Disease-causing (★★) |
| BEST1 D228H | 228 | Cytoplasmic | Disease-causing (★★) |
| BEST1 F80L | 80 | Transmembrane | Disease-causing (★★) |
| BEST1 I205T | 205 | Cytoplasmic | Disease-causing (★★) |
| BEST1 D228E | 228 | Cytoplasmic | Disease-causing (★) |
| BEST1 D303V | 303 | Cytoplasmic | Disease-causing (★) |
| BEST1 V235A | 235 | 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 Autosomal dominant vitreoretinochoroidopathy variants (39 disease-causing).
- Autosomal recessive bestrophinopathy is also caused by BEST1 variants; they fall mostly in different places as the Autosomal dominant vitreoretinochoroidopathy variants (22 disease-causing).
- Retinal disorder is also caused by BEST1 variants; they fall partly in the same places as the Autosomal dominant vitreoretinochoroidopathy variants (4 disease-causing).
Diseases related to Autosomal dominant vitreoretinochoroidopathy
- 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
- Isolated macular dystrophy, also linked to BEST1
- BEST1-related dominant retinopathy, also linked to BEST1
Frequently asked questions
Which genes are linked to Autosomal dominant vitreoretinochoroidopathy?
In CATVariant, Autosomal dominant vitreoretinochoroidopathy is linked to 1 analyzed protein: BEST1 (Bestrophin-1).
How many genetic variants are linked to Autosomal dominant vitreoretinochoroidopathy?
31 variants: 9 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 13 are of uncertain significance or have conflicting reports.
Which uncertain variants in Autosomal dominant vitreoretinochoroidopathy 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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