cone dystrophy
MONDO:0000455Mondo
Findings
No curated finding names cone dystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision.
Definition from the Mondo Disease Ontology (MONDO:0000455), read 2026-09-29. CC BY 4.0.
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.
- Abnormal electroretinogramHPOHP:0000512
- Very frequent (80% to 99% of cases)
- Abnormal retinal pigmentationHPOHP:0007703
- Very frequent (80% to 99% of cases)
- Color vision defectHPOHP:0000551
- Very frequent (80% to 99% of cases)
- PhotophobiaHPOHP:0000613
- Very frequent (80% to 99% of cases)
- Visual impairmentHPOHP:0000505
- Very frequent (80% to 99% of cases)
Genes
7 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.
- IRX5HGNC:14361
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- IRX6HGNC:14675
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- CNGB3HGNC:2153
- Supportive · Orphanet · Autosomal dominant · 2021
- GNAT2HGNC:4394
- Supportive · Orphanet · Autosomal dominant · 2021
- GUCA1AHGNC:4678
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of