cone-rod dystrophy 20
MONDO:0014427Mondo
Findings
No curated finding names cone-rod dystrophy 20 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 POC1B gene.
Definition from the Mondo Disease Ontology (MONDO:0014427), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile 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.
- Central scotomaHPOHP:0000603
- 4 of 4 reported patients
- Constriction of peripheral visual fieldHPOHP:0001133
- 4 of 4 reported patients
- NystagmusHPOHP:0000639
- 1 of 1 reported patient
- Reduced visual acuityHPOHP:0007663
- 4 of 4 reported patients
- TritanomalyHPOHP:0000552
- 2 of 3 reported patients
- Spicular pigmentation of the retinaHPOHP:0007737
- 2 of 4 reported patients
- High myopiaHPOHP:0011003
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.
- POC1BHGNC:30836
- Definitive · ClinGen · Autosomal recessive · 2025
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: cone-rod dystrophy 20
- Also called
- cone-rod dystrophy caused by mutation in POC1Bcone-rod dystrophy type 20CORD20POC1B cone-rod dystrophy