retinitis pigmentosa 97
MONDO:0957314Mondo
Findings
No curated finding names retinitis pigmentosa 97 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 · Childhood 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.
- Macular degenerationHPOHP:0000608
- 11 of 11 reported patients
- NyctalopiaHPOHP:0000662
- 11 of 11 reported patients
- Reduced visual acuityHPOHP:0007663
- 11 of 11 reported patients
- Rod-cone dystrophyHPOHP:0000510
- 11 of 11 reported patients
- AmblyopiaHPOHP:0000646
- 2 of 11 reported patients
- Iris atrophyHPOHP:0001089
- 1 of 11 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.
- VWA8HGNC:29071
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2023
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2023
Where it sits
- A kind of