retinitis pigmentosa 90
MONDO:0033563Mondo
Findings
No curated finding names retinitis pigmentosa 90 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
- Infantile onset · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
9 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
- 7 of 7 reported patients
- Constriction of peripheral visual fieldHPOHP:0001133
- 3 of 4 reported patients
- Attenuation of retinal blood vesselsHPOHP:0007843
- 5 of 7 reported patients
- Spicular pigmentation of the retinaHPOHP:0007737
- 2 of 7 reported patients
- Cystoid macular edemaHPOHP:0011505
- 1 of 7 reported patients
- Hyperautofluorescent retinal lesionHPOHP:0025158
- 1 of 7 reported patients
- StrabismusHPOHP:0000486
- 1 of 7 reported patients
- Reduced visual acuityHPOHP:0007663
- Retinal pigment epithelial atrophyHPOHP:0007722
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.
- IDH3AHGNC:5384
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of