retinitis pigmentosa 70
MONDO:0014400Mondo
Findings
No curated finding names retinitis pigmentosa 70 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 PRPF4 gene.
Definition from the Mondo Disease Ontology (MONDO:0014400), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Young adult 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.
- Reduced visual acuityHPOHP:0007663
- 5 of 5 reported patients
- Retinal degenerationHPOHP:0000546
- 5 of 5 reported patients
- Rod-cone dystrophyHPOHP:0000510
- 5 of 5 reported patients
- Attenuation of retinal blood vesselsHPOHP:0007843
- 4 of 5 reported patients
- Constriction of peripheral visual fieldHPOHP:0001133
- 4 of 5 reported patients
- Macular degenerationHPOHP:0000608
- 4 of 5 reported patients
- NyctalopiaHPO
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.
- PRPF4HGNC:17349
- Definitive · G2P · Autosomal dominant · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: retinitis pigmentosa 70
- Also called
- PRPF4 retinitis pigmentosaretinitis pigmentosa caused by mutation in PRPF4retinitis pigmentosa type 70RP70