retinitis pigmentosa
Findings
No curated finding names retinitis pigmentosa yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.
Definition from the Mondo Disease Ontology (MONDO:0019200), read 2026-09-29. CC BY 4.0.
Features
31 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.
- Abnormal electroretinogramHPOHP:0000512
- Very frequent (80% to 99% of cases)
- Abnormal retinal pigmentationHPOHP:0007703
- Very frequent (80% to 99% of cases)
- Abnormal retinal vascular morphologyHPOHP:0008046
- Very frequent (80% to 99% of cases)
- BlindnessHPOHP:0000618
- Very frequent (80% to 99% of cases)
- Conductive hearing impairmentHPOHP:0000405
- Very frequent (80% to 99% of cases)
- NystagmusHPOHP:0000639
- Very frequent (80% to 99% of cases)
- Optic atrophyHPOHP:0000648
- Very frequent (80% to 99% of cases)
- PhotophobiaHPOHP:0000613
- Very frequent (80% to 99% of cases)
- Progressive night blindnessHPOHP:0007675
- Very frequent (80% to 99% of cases)
- Retinal degenerationHPOHP:0000546
- Very frequent (80% to 99% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Very frequent (80% to 99% of cases)
- Spicular pigmentation of the retinaHPOHP:0007737
- Very frequent (80% to 99% of cases)
Show the remaining 19
- Visual impairmentHPOHP:0000505
- Very frequent (80% to 99% of cases)
- Abnormal central response of multifocal electroretinogramHPOHP:0030488
- Frequent (30% to 79% of cases)
- Abnormal full-field electroretinogramHPOHP:0030466
- Frequent (30% to 79% of cases)
- Attenuation of retinal blood vesselsHPOHP:0007843
- Frequent (30% to 79% of cases)
- Cystoid macular edemaHPOHP:0011505
- Frequent (30% to 79% of cases)
- GlaucomaHPOHP:0000501
Genes
106 genes
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.
- BEST1HGNC:12703
- Definitive · G2P · Autosomal recessive · 2017
- Supportive · Orphanet · Autosomal dominant · 2021
- HGNC:21555HGNC:21555
- Definitive · G2P · Autosomal recessive · 2017
- Supportive · Orphanet · Autosomal dominant · 2021
- RAX2HGNC:18286
- Definitive · G2P · Autosomal recessive · 2019
- Moderate · Franklin by Genoox · Autosomal recessive · 2019
- REEP6HGNC:30078
- Definitive · G2P · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
- Narrower terms (102)
- autosomal recessive pericentral pigmentary retinopathy
- cone-rod dystrophy 15
- cone-rod dystrophy 2
- dominant pericentral pigmentary retinopathy
- late-adult onset retinitis pigmentosa
- retinitis pigmentosa 1
- retinitis pigmentosa 10
- retinitis pigmentosa 11
- retinitis pigmentosa 12
- retinitis pigmentosa 13
- retinitis pigmentosa 14
- retinitis pigmentosa 17
- retinitis pigmentosa 18
- retinitis pigmentosa 19
- retinitis pigmentosa 2
- retinitis pigmentosa 20
- retinitis pigmentosa 22
- retinitis pigmentosa 23
- retinitis pigmentosa 24
- retinitis pigmentosa 25
- retinitis pigmentosa 26
- retinitis pigmentosa 27