Bothnia retinal dystrophy
Findings
No curated finding names Bothnia retinal dystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens in the posterior pole are also noted.
Definition from the Mondo Disease Ontology (MONDO:0011838), read 2026-09-29. CC BY 4.0.
Features
22 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.
- Abnormal dark-adapted electroretinogramHPOHP:0030469
- Very frequent (80% to 99% of cases)
- Color vision defectHPOHP:0000551
- Very frequent (80% to 99% of cases)
- Increased OCT-measured foveal thicknessHPOHP:0030618
- Very frequent (80% to 99% of cases)
- Progressive visual lossHPOHP:0000529
- Very frequent (80% to 99% of cases)
- Undetectable dark-adapted electroretinogramHPOHP:0030474
- Very frequent (80% to 99% of cases)
- Visual field defectHPOHP:0001123
- Very frequent (80% to 99% of cases)
Show the remaining 10
- RetinitisHPOHP:0032118
- Frequent (30% to 79% of cases)
- Abnormal choroid morphologyHPOHP:0000610
- Occasional (5% to 29% of cases)
- Central scotomaHPOHP:0000603
- Occasional (5% to 29% of cases)
- ERG: Reduced dark-adapted b-wave amplitudeHPOHP:0007984
- Occasional (5% to 29% of cases)
- Large central visual field defectHPOHP:0001129
- Occasional (5% to 29% of cases)
- NyctalopiaHPOHP:0000662
- Occasional (5% to 29% of cases)
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.
- RLBP1HGNC:10024
- Definitive · G2P · Autosomal recessive · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: Bothnia retinal dystrophy
- Also called
- Vasterbotten dystrophyVästerbotten dystrophyVC$sterbotten dystrophy