retinitis pigmentosa 79
MONDO:0044320Mondo
Findings
No curated finding names retinitis pigmentosa 79 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
7 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
- Constriction of peripheral visual fieldHPOHP:0001133
- NyctalopiaHPOHP:0000662
- Optic disc pallorHPOHP:0000543
- PhotophobiaHPOHP:0000613
- Reduced visual acuityHPOHP:0007663
- Spicular pigmentation of the retinaHPOHP:0007737
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.
- HK1HGNC:4922
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2019
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Limited · G2P · Autosomal dominant · 2025
Where it sits
- A kind of