cone-rod dystrophy 2
MONDO:0007362Mondo
Findings
No curated finding names cone-rod dystrophy 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any cone-rod dystrophy in which the cause of the disease is a mutation in the CRX gene.
Definition from the Mondo Disease Ontology (MONDO:0007362), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
11 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.
- Color vision defectHPOHP:0000551
- 7 of 7 reported patients · Juvenile onset
- Constriction of peripheral visual fieldHPOHP:0001133
- 7 of 7 reported patients
- Macular hyperpigmentationHPOHP:0011509
- 7 of 7 reported patients
- MetamorphopsiaHPOHP:0012508
- 1 of 1 reported patient
- Reduced visual acuityHPOHP:0007663
- 7 of 7 reported patients · Juvenile onset
- Retinal pigment epithelial atrophyHPOHP:0007722
- 1 of 1 reported patient
- Spicular pigmentation of the retina
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.
- CRXHGNC:2383
- Definitive · Ambry Genetics · Autosomal dominant · 2024
- Definitive · ClinGen · Autosomal dominant · 2024
Where it sits
Other names
7 names
Resolves to: cone-rod dystrophy 2
- Also called
- cone-rod dystrophy caused by mutation in CRXcone-rod dystrophy type 2cone-rod retinal dystrophy-2CORD2CRD2CRX cone-rod dystrophyRCRD2