retinitis pigmentosa 83
MONDO:0032577Mondo
Findings
No curated finding names retinitis pigmentosa 83 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
HPO, annotations 2026-09-02
Features
10 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
- 12 of 12 reported patients
- Posterior subcapsular cataractHPOHP:0007787
- 3 of 3 reported patients
- Reduced visual acuityHPOHP:0007663
- 5 of 5 reported patients
- Rod-cone dystrophyHPOHP:0000510
- 3 of 3 reported patients
- Spicular pigmentation of the retinaHPOHP:0007737
- 12 of 12 reported patients
- Constriction of peripheral visual fieldHPOHP:0001133
- 4 of 5 reported patients
- Vitreous floatersHPOHP:0100832
- 2 of 3 reported patients
- Cystoid macular edemaHPOHP:0011505
- 1 of 3 reported patients
- Asteroid hyalosisHPOHP:0030672
- Attenuation of retinal blood vesselsHPOHP:0007843
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.
- ARL3HGNC:694
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2019
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2018
- Limited · G2P · Autosomal dominant · 2025
Where it sits
- A kind of