cone-rod dystrophy 18
MONDO:0014153Mondo
Findings
No curated finding names cone-rod dystrophy 18 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 RAB28 gene.
Definition from the Mondo Disease Ontology (MONDO:0014153), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
6 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.
- Cone/cone-rod dystrophyHPOHP:0000548
- 5 of 5 reported patients
- High myopiaHPOHP:0011003
- 4 of 4 reported patients
- Reduced visual acuityHPOHP:0007663
- 4 of 4 reported patients
- Foveal hyperpigmentationHPOHP:0008001
- 3 of 4 reported patients
- Central scotomaHPOHP:0000603
- 1 of 3 reported patients
- Foveal atrophyHPOHP:0025010
- 1 of 5 reported patients
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.
- RAB28HGNC:9768
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2024
Where it sits
Other names
4 names
Resolves to: cone-rod dystrophy 18
- Also called
- cone-rod dystrophy caused by mutation in RAB28cone-rod dystrophy type 18CORD18RAB28 cone-rod dystrophy