retinitis pigmentosa 1
MONDO:0008377Mondo
Findings
No curated finding names retinitis pigmentosa 1 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 RP1 gene.
Definition from the Mondo Disease Ontology (MONDO:0008377), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
8 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.
- Attenuation of retinal blood vesselsHPOHP:0007843
- 10 of 10 reported patients
- Constriction of peripheral visual fieldHPOHP:0001133
- 10 of 10 reported patients
- Optic disc pallorHPOHP:0000543
- 1 of 1 reported patient
- Spicular pigmentation of the retinaHPOHP:0007737
- 1 of 1 reported patient
- NyctalopiaHPOHP:0000662
- 26 of 28 reported patients
- Reduced visual acuityHPOHP:0007663
- 16 of 18 reported patients
- ScotomaHPO
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.
- RP1HGNC:10263
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Definitive · Illumina · Autosomal dominant · 2019
- Definitive · G2P · Autosomal recessive · 2017
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
- A kind of
Other names
4 names
Resolves to: retinitis pigmentosa 1
- Also called
- retinitis pigmentosa caused by mutation in RP1retinitis pigmentosa type 1RP1RP1 retinitis pigmentosa