cone-rod dystrophy 3
MONDO:0011395Mondo
Findings
No curated finding names cone-rod dystrophy 3 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 ABCA4 gene.
Definition from the Mondo Disease Ontology (MONDO:0011395), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
10 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
- 10 of 10 reported patients
- Peripheral visual field lossHPOHP:0007994
- 10 of 16 reported patients
- Central scotomaHPOHP:0000603
- 17 of 28 reported patients
- Bull's eye maculopathyHPOHP:0011504
- 4 of 12 reported patients
- Attenuation of retinal blood vesselsHPOHP:0007843
- Cone/cone-rod dystrophyHPOHP:0000548
- ERG: Reduced dark-adapted b-wave amplitudeHPOHP:0007984
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.
- ABCA4HGNC:34
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
Other names
4 names
Resolves to: cone-rod dystrophy 3
- Also called
- ABCA4 cone-rod dystrophycone-rod dystrophy caused by mutation in ABCA4cone-rod dystrophy type 3CORD3