retinitis pigmentosa 46
MONDO:0012943Mondo
Findings
No curated finding names retinitis pigmentosa 46 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 IDH3B gene.
Definition from the Mondo Disease Ontology (MONDO:0012943), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
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.
- Attenuation of retinal blood vesselsHPOHP:0007843
- 2 of 2 reported patients
- Constriction of peripheral visual fieldHPOHP:0001133
- 2 of 2 reported patients
- Decreased light- and dark-adapted electroretinogram amplitudeHPOHP:0000654
- 2 of 2 reported patients
- Optic disc pallorHPOHP:0000543
- 2 of 2 reported patients
- Pigmentary retinopathyHPOHP:0000580
- 2 of 2 reported patients
- Rod-cone dystrophyHPOHP:0000510
- 2 of 2 reported patients
- Visual impairment
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.
- IDH3BHGNC:5385
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · G2P · Autosomal recessive · 2017
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
4 names
Resolves to: retinitis pigmentosa 46
- Also called
- IDH3B retinitis pigmentosaretinitis pigmentosa caused by mutation in IDH3Bretinitis pigmentosa type 46RP46