Fuchs' endothelial dystrophy
Findings
No curated finding names Fuchs' endothelial dystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity.
Definition from the Mondo Disease Ontology (MONDO:0005321), read 2026-09-29. CC BY 4.0.
Features
9 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.
- Abnormal corneal endothelium morphologyHPOHP:0011488
- Very frequent (80% to 99% of cases)
- Abnormal Descemet membrane morphologyHPOHP:0011490
- Very frequent (80% to 99% of cases)
- Corneal opacityHPOHP:0007957
- Very frequent (80% to 99% of cases)
- EdemaHPOHP:0000969
- Very frequent (80% to 99% of cases)
- Reduced number of corneal endothelial cellsHPOHP:0011491
- Very frequent (80% to 99% of cases)
- Reduced visual acuityHPOHP:0007663
- Very frequent (80% to 99% of cases)
- Eye movement-induced painHPOHP:0030857
- Frequent (30% to 79% of cases)
- NyctalopiaHPOHP:0000662
- Frequent (30% to 79% of cases)
- Visual lossHPOHP:0000572
- Frequent (30% to 79% of cases)
Genes
7 genes
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.
- COL8A2HGNC:2216
- Supportive · Orphanet · Autosomal dominant · 2021
- HGNC:26504HGNC:26504
- Supportive · Orphanet · Autosomal dominant · 2021
- SLC4A11HGNC:16438
- Supportive · Orphanet · Autosomal dominant · 2021
- TCF4HGNC:11634
- Supportive · Orphanet · Autosomal dominant · 2021
- ZEB1HGNC:11642
- Supportive · Orphanet · Autosomal dominant · 2021
- LOXHD1HGNC:26521
Where it sits
- Narrower terms (8)
- corneal dystrophy, Fuchs endothelial, 1
- corneal dystrophy, fuchs endothelial, 2
- corneal dystrophy, Fuchs endothelial, 3
- corneal dystrophy, Fuchs endothelial, 4
- corneal dystrophy, fuchs endothelial, 5
- corneal dystrophy, Fuchs endothelial, 6
- corneal dystrophy, fuchs endothelial, 7
- corneal dystrophy, Fuchs endothelial, 8
Other names
5 names
Resolves to: Fuchs' endothelial dystrophy
- Also called
- corneal dystrophy, Fuchs endothelialEndoepithelial corneal dystrophyFECDFuchs endothelial dystrophylate hereditary endothelial dystrophy