retinitis pigmentosa 50
MONDO:0013175Mondo
Findings
No curated finding names retinitis pigmentosa 50 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any retinitis pigmentosa in which the cause of the disease is a mutation in the BEST1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013175), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
7 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 electroretinogramHPOHP:0000512
- Attenuation of retinal blood vesselsHPOHP:0007843
- NyctalopiaHPOHP:0000662
- Optic disc pallorHPOHP:0000543
- Reduced visual acuityHPOHP:0007663
- Juvenile onset
- Retinal detachmentHPOHP:0000541
- Retinal flecksHPOHP:0012045
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
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2024
Where it sits
- A kind of
Other names
5 names
Resolves to: retinitis pigmentosa 50
- Also called
- BEST1 retinitis pigmentosaretinitis pigmentosa caused by mutation in BEST1retinitis pigmentosa type 50retinitis pigmentosa-50RP50