retinitis pigmentosa 43
MONDO:0013437Mondo
Findings
No curated finding names retinitis pigmentosa 43 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 PDE6A gene.
Definition from the Mondo Disease Ontology (MONDO:0013437), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
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.
- Attenuation of retinal blood vesselsHPOHP:0007843
- 4 of 4 reported patients
- NyctalopiaHPOHP:0000662
- 4 of 4 reported patients · Juvenile onset
- Optic disc pallorHPOHP:0000543
- 4 of 4 reported patients
- Peripheral visual field lossHPOHP:0007994
- 4 of 4 reported patients
- Pigmentary retinopathyHPOHP:0000580
- 4 of 4 reported patients
- Spicular pigmentation of the retinaHPOHP:0007737
- 4 of 4 reported patients
- Visual impairmentHPO
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.
- PDE6AHGNC:8785
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
4 names
Resolves to: retinitis pigmentosa 43
- Also called
- PDE6A retinitis pigmentosaretinitis pigmentosa caused by mutation in PDE6Aretinitis pigmentosa type 43RP43