retinitis pigmentosa 20
MONDO:0013425Mondo
Findings
No curated finding names retinitis pigmentosa 20 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 RPE65 gene.
Definition from the Mondo Disease Ontology (MONDO:0013425), 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.
- Attenuation of retinal blood vesselsHPOHP:0007843
- NyctalopiaHPOHP:0000662
- NystagmusHPOHP:0000639
- Rod-cone dystrophyHPOHP:0000510
- Severely reduced visual acuityHPOHP:0001141
- Visual impairmentHPOHP:0000505
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.
- RPE65HGNC:10294
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Limited · Ambry Genetics · Autosomal dominant · 2024
Where it sits
Other names
4 names
Resolves to: retinitis pigmentosa 20
- Also called
- retinitis pigmentosa caused by mutation in RPE65retinitis pigmentosa type 20RP20RPE65 retinitis pigmentosa