retinitis pigmentosa 23
MONDO:0010320Mondo
Findings
No curated finding names retinitis pigmentosa 23 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 OFD1 gene.
Definition from the Mondo Disease Ontology (MONDO:0010320), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
11 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.
- Absent foveal reflexHPOHP:0030825
- 1 of 1 reported patient
- Attenuation of retinal blood vesselsHPOHP:0007843
- 1 of 1 reported patient
- Constriction of peripheral visual fieldHPOHP:0001133
- 1 of 1 reported patient
- Retinal pigment epithelial atrophyHPOHP:0007722
- 2 of 2 reported patients
- Rod-cone dystrophyHPOHP:0000510
- 2 of 2 reported patients
- Severely reduced visual acuityHPOHP:0001141
- 2 of 2 reported patients
- Color vision defectHPO
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.
- OFD1HGNC:2567
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Strong · G2P · X-linked · 2017
Where it sits
Other names
5 names
Resolves to: retinitis pigmentosa 23
- Also called
- OFD1 retinitis pigmentosaretinitis pigmentosa 23, X-linked recessiveretinitis pigmentosa caused by mutation in OFD1retinitis pigmentosa type 23RP23