retinitis pigmentosa 13
MONDO:0010806Mondo
Findings
No curated finding names retinitis pigmentosa 13 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 PRPF8 gene.
Definition from the Mondo Disease Ontology (MONDO:0010806), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Typified by incomplete penetrance
- Onset and course
- Juvenile onset · Young adult 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.
- NyctalopiaHPOHP:0000662
- 9 of 11 reported patients · Juvenile onset
- Cystoid macular edemaHPOHP:0011505
- 4 of 7 reported patients
- Subcapsular cataractHPOHP:0000523
- 4 of 11 reported patients
- Perifoveal ring of hyperautofluorescenceHPOHP:0030629
- 2 of 7 reported patients
- Optic disc drusenHPOHP:0012426
- 1 of 7 reported patients
- Asteroid hyalosisHPOHP:0030672
- 1 of 11 reported patients
- Attenuation of retinal blood vesselsHPO
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.
- PRPF8HGNC:17340
- Definitive · G2P · Autosomal dominant · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
4 names
Resolves to: retinitis pigmentosa 13
- Also called
- PRPF8 retinitis pigmentosaretinitis pigmentosa caused by mutation in PRPF8retinitis pigmentosa type 13RP13