retinitis pigmentosa 40
MONDO:0013429Mondo
Findings
No curated finding names retinitis pigmentosa 40 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 PDE6B gene.
Definition from the Mondo Disease Ontology (MONDO:0013429), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
6 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 light- and dark-adapted electroretinogramHPOHP:0008323
- 6 of 6 reported patients
- Attenuation of retinal blood vesselsHPOHP:0007843
- 7 of 7 reported patients
- CataractHPOHP:0000518
- 1 of 1 reported patient · Adult onset
- NyctalopiaHPOHP:0000662
- 6 of 6 reported patients · Childhood onset
- 1 of 1 reported patient
- Spicular pigmentation of the retinaHPOHP:0007737
- 7 of 7 reported patients
- Rod-cone dystrophyHPOHP:0000510
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.
- PDE6BHGNC:8786
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
5 names
Resolves to: retinitis pigmentosa 40
- Also called
- PDE6B retinitis pigmentosaretinitis pigmentosa caused by mutation in PDE6Bretinitis pigmentosa type 40retinitis pigmentosa-40RP40