retinitis pigmentosa 59
MONDO:0013468Mondo
Findings
No curated finding names retinitis pigmentosa 59 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 DHDDS gene.
Definition from the Mondo Disease Ontology (MONDO:0013468), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
3 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
- 3 of 3 reported patients
- NyctalopiaHPOHP:0000662
- 3 of 3 reported patients
- Reduced visual acuityHPOHP:0007663
- 3 of 3 reported patients
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.
- DHDDSHGNC:20603
- Definitive · G2P · Autosomal recessive · 2017
- Definitive · Natera · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
Where it sits
Other names
5 names
Resolves to: retinitis pigmentosa 59
- Also called
- congenital disorder of glycosylation, type 1bbDHDDS retinitis pigmentosaretinitis pigmentosa caused by mutation in DHDDSretinitis pigmentosa type 59RP59