retinitis pigmentosa 95
MONDO:0859308Mondo
Findings
No curated finding names retinitis pigmentosa 95 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
- Middle age onset · Childhood onset · Late 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.
- Attenuation of retinal blood vesselsHPOHP:0007843
- 6 of 6 reported patients
- Constriction of peripheral visual fieldHPOHP:0001133
- 5 of 5 reported patients
- Reduced visual acuityHPOHP:0007663
- 6 of 6 reported patients
- Optic disc pallorHPOHP:0000543
- 5 of 6 reported patients
- Spicular pigmentation of the retinaHPOHP:0007737
- 4 of 6 reported patients
- Perifoveal ring of hyperautofluorescenceHPOHP:0030629
- 2 of 6 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.
- RAX2HGNC:18286
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2022
Where it sits
- A kind of