retinitis pigmentosa 80
MONDO:0054708Mondo
Findings
No curated finding names retinitis pigmentosa 80 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
- Juvenile onset · Young adult onset · Childhood onset
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.
- NyctalopiaHPOHP:0000662
- 1 of 1 reported patient · Childhood onset
- Progressive visual lossHPOHP:0000529
- 6 of 6 reported patients
- Spicular pigmentation of the retinaHPOHP:0007737
- 1 of 1 reported patient
- Attenuation of retinal blood vesselsHPOHP:0007843
- 3 of 8 reported patients
- Macular atrophyHPOHP:0007401
- 3 of 8 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.
- IFT140HGNC:29077
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023