Bothnia retinal dystrophy: genes and variants
Bothnia retinal dystrophy is linked to 1 analyzed protein (RLBP1). 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 Bothnia retinal dystrophy
RLBP1: Retinaldehyde-binding protein 1
It binds 11-cis-retinoids in retinal pigment epithelium and Muller cells and supports regeneration and trafficking of visual-cycle chromophore. Biallelic pathogenic variants cause retinal dystrophies including Bothnia dystrophy, retinitis punctata albescens, and fundus albipunctatus-like disease.
3 disease-causing and 5 uncertain variants in RLBP1 are linked to Bothnia retinal dystrophy.
Known disease-causing variants in Bothnia retinal dystrophy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| RLBP1 R151Q | 151 | CRAL-TRIO | Disease-causing (★★) |
| RLBP1 M226K | 226 | CRAL-TRIO | Disease-causing (★★) |
| RLBP1 L114P | 114 | Disease-causing (★) |
Same protein, different disease
- Retinitis pigmentosa is also caused by RLBP1 variants; they fall partly in the same places as the Bothnia retinal dystrophy variants (3 disease-causing).
Diseases related to Bothnia retinal dystrophy
- Retinitis pigmentosa, also linked to RLBP1
- Pigmentary retinal dystrophy, also linked to RLBP1
- Autosomal recessive retinitis pigmentosa, also linked to RLBP1
- Newfoundland cone-rod dystrophy, also linked to RLBP1
Frequently asked questions
Which genes are linked to Bothnia retinal dystrophy?
In CATVariant, Bothnia retinal dystrophy is linked to 1 analyzed protein: RLBP1 (Retinaldehyde-binding protein 1).
How many genetic variants are linked to Bothnia retinal dystrophy?
11 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 Bothnia retinal dystrophy 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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