retinitis pigmentosa 57
MONDO:0013315Mondo
Findings
No curated finding names retinitis pigmentosa 57 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 PDE6G gene.
Definition from the Mondo Disease Ontology (MONDO:0013315), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
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.
- Constriction of peripheral visual fieldHPOHP:0001133
- 4 of 4 reported patients
- Reduced visual acuityHPOHP:0007663
- 6 of 6 reported patients
- Absent foveal reflexHPOHP:0030825
- Attenuation of retinal blood vesselsHPOHP:0007843
- Young adult onset
- Cystoid macular edemaHPOHP:0011505
- Optic disc pallorHPOHP:0000543
- Young adult onset
- Rod-cone dystrophyHPOHP:0000510
- Spicular pigmentation of the retina
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.
- PDE6GHGNC:8789
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Moderate · Ambry Genetics · Autosomal recessive · 2024
- Moderate · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
4 names
Resolves to: retinitis pigmentosa 57
- Also called
- PDE6G retinitis pigmentosaretinitis pigmentosa caused by mutation in PDE6Gretinitis pigmentosa type 57RP57