retinitis pigmentosa 4
MONDO:0013395Mondo
Findings
No curated finding names retinitis pigmentosa 4 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 RHO gene.
Definition from the Mondo Disease Ontology (MONDO:0013395), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
9 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
- 2 of 2 reported patients
- Attenuation of retinal blood vesselsHPOHP:0007843
- 2 of 2 reported patients
- NyctalopiaHPOHP:0000662
- 2 of 2 reported patients · Childhood onset
- Reduced visual acuityHPOHP:0007663
- 2 of 2 reported patients · Adult onset
- Retinal atrophyHPOHP:0001105
- 2 of 2 reported patients
- Rod-cone dystrophyHPOHP:0000510
- 2 of 2 reported patients
- Spicular pigmentation of the retina
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.
- RHOHGNC:10012
- Definitive · Ambry Genetics · Semidominant · 2018
- Definitive · G2P · Autosomal recessive · 2024
- Definitive · G2P · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
5 names
Resolves to: retinitis pigmentosa 4
- Also called
- retinitis pigmentosa 4, autosomal dominant or recessiveretinitis pigmentosa caused by mutation in RHOretinitis pigmentosa type 4RHO retinitis pigmentosaRP4