retinitis pigmentosa 96
MONDO:0859367Mondo
Findings
No curated finding names retinitis pigmentosa 96 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
5 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.
- Retinal thinning on OCTHPOHP:0030329
- 1 of 1 reported patient
- Rod-cone dystrophyHPOHP:0000510
- 18 of 18 reported patients
- Spicular pigmentation of the retinaHPOHP:0007737
- 1 of 1 reported patient
- Reduced visual acuityHPOHP:0007663
- 17 of 18 reported patients
- Constriction of peripheral visual fieldHPOHP:0001133
- 14 of 16 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.
- SAGHGNC:10521
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
- A kind of