retinitis pigmentosa 2
MONDO:0010723Mondo
Findings
No curated finding names retinitis pigmentosa 2 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 RP2 gene.
Definition from the Mondo Disease Ontology (MONDO:0010723), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked inheritance
- Onset and course
- Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
12 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.
- MyopiaHPOHP:0000545
- 19 of 19 reported patients
- Atrophic fundus lesionHPOHP:0001099
- 15 of 25 reported patients
- High myopiaHPOHP:0011003
- 11 of 19 reported patients
- Central scotomaHPOHP:0000603
- 13 of 25 reported patients
- Bull's eye maculopathyHPOHP:0011504
- 7 of 25 reported patients
- Ring scotomaHPOHP:0030529
- 4 of 25 reported patients
- Pericentral scotomaHPOHP:0007761
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.
- RP2HGNC:10274
- 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 2
- Also called
- retinitis pigmentosa caused by mutation in RP2retinitis pigmentosa type 2RP2RP2 retinitis pigmentosa