retinitis pigmentosa 44
MONDO:0013414Mondo
Findings
No curated finding names retinitis pigmentosa 44 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 RGR gene.
Definition from the Mondo Disease Ontology (MONDO:0013414), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
5 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
- Constriction of peripheral visual fieldHPOHP:0001133
- Decreased light- and dark-adapted electroretinogram amplitudeHPOHP:0000654
- Rod-cone dystrophyHPOHP:0000510
- Visual impairmentHPOHP:0000505
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.
- RGRHGNC:9990
- Limited · Ambry Genetics · Semidominant · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2019
- Limited · G2P · Autosomal dominant · 2021
- Limited · PanelApp Australia · Autosomal dominant · 2025
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: retinitis pigmentosa 44
- Also called
- retinitis pigmentosa caused by mutation in RGRretinitis pigmentosa type 44RGR retinitis pigmentosaRP44