retinitis pigmentosa 3
MONDO:0010227Mondo
Findings
No curated finding names retinitis pigmentosa 3 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 RPGR gene.
Definition from the Mondo Disease Ontology (MONDO:0010227), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked inheritance
- Onset and course
- Middle age onset · Childhood onset
HPO, annotations 2026-09-02
Features
10 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.
- NyctalopiaHPOHP:0000662
- 9 of 9 reported patients
- Perifoveal hypoautofluorescenceHPOHP:0034272
- 4 of 4 reported patients
- PhotophobiaHPOHP:0000613
- 5 of 5 reported patients
- Reduced visual acuityHPOHP:0007663
- 9 of 9 reported patients
- Spicular pigmentation of the retinaHPOHP:0007737
- 9 of 9 reported patients
- Color vision defectHPOHP:0000551
- 8 of 9 reported patients
- Constriction of peripheral visual fieldHPO
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.
- RPGRHGNC:10295
- Definitive · Ambry Genetics · X-linked · 2018
- Definitive · G2P · X-linked · 2017
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Strong · PanelApp Australia · X-linked · 2025
Where it sits
Other names
4 names
Resolves to: retinitis pigmentosa 3
- Also called
- retinitis pigmentosa caused by mutation in RPGRretinitis pigmentosa type 3RP3RPGR retinitis pigmentosa