epithelial basement membrane dystrophy
MONDO:0007375Mondo
Findings
No curated finding names epithelial basement membrane dystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
4 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.
- Recurrent corneal erosionsHPOHP:0000495
- 7 of 7 reported patients
- Reduced visual acuityHPOHP:0007663
- 1 of 7 reported patients
- Corneal dystrophyHPOHP:0001131
- Map-dot-fingerprint corneal dystrophyHPOHP:0007690
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.
- TGFBIHGNC:11771
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
5 names
Resolves to: epithelial basement membrane dystrophy
- Also called
- anterior basement membrane dystrophyCogan corneal dystrophyCogan microcystic epithelial dystrophyEBMDMap-dot-fingerprint dystrophy