retinitis pigmentosa 78
MONDO:0044314Mondo
Findings
No curated finding names retinitis pigmentosa 78 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
6 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
- 3 of 3 reported patients
- Reduced visual acuityHPOHP:0007663
- 3 of 3 reported patients
- Visual field defectHPOHP:0001123
- 3 of 3 reported patients
- Cystoid macular edemaHPOHP:0011505
- 2 of 3 reported patients
- Optic disc pallorHPOHP:0000543
- 2 of 3 reported patients
- PhotopsiaHPOHP:0030786
- 2 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.
- ARHGEF18HGNC:17090
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · G2P · Autosomal recessive · 2017
Where it sits
- A kind of