epithelial recurrent erosion dystrophy
Findings
No curated finding names epithelial recurrent erosion dystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision.
Definition from the Mondo Disease Ontology (MONDO:0007381), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
13 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.
- Corneal dystrophyHPOHP:0001131
- Very frequent (80% to 99% of cases)
- Ocular painHPOHP:0200026
- Very frequent (80% to 99% of cases)
- Progressive visual lossHPOHP:0000529
- Very frequent (80% to 99% of cases)
- Recurrent corneal erosionsHPOHP:0000495
- Very frequent (80% to 99% of cases)
- Subepithelial corneal opacitiesHPOHP:0008039
- Very frequent (80% to 99% of cases)
- Blurred visionHPOHP:0000622
- Frequent (30% to 79% of cases)
Show the remaining 1
- Visual impairmentHPOHP:0000505
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.
- COL17A1HGNC:2194
- Definitive · G2P · Autosomal dominant · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Moderate · Ambry Genetics · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
4 names
Resolves to: epithelial recurrent erosion dystrophy
- Also called
- dystrophia Helsinglandicadystrophia SmolandiensisEREDrecurrent hereditary corneal erosions