congenital hereditary endothelial dystrophy of cornea
Findings
No curated finding names congenital hereditary endothelial dystrophy of cornea yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision.
Definition from the Mondo Disease Ontology (MONDO:0009019), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
11 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 Descemet membrane morphologyHPOHP:0011490
- Very frequent (80% to 99% of cases)
- Corneal opacityHPOHP:0007957
- Very frequent (80% to 99% of cases)
- Corneal stromal edemaHPOHP:0012040
- Very frequent (80% to 99% of cases)
- Increased corneal thicknessHPOHP:0011487
- Very frequent (80% to 99% of cases)
- Blurred visionHPOHP:0000622
- Frequent (30% to 79% of cases)
- Reduced visual acuityHPOHP:0007663
- Frequent (30% to 79% of cases)
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.
- SLC4A11HGNC:16438
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2022
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
8 names
Resolves to: congenital hereditary endothelial dystrophy of cornea
- Also called
- autosomal recessive CHEDautosomal recessive congenital hereditary endothelial dystrophyCHEDCHED2CHEDIIcongenital hereditary endothelial dystrophy type 2corneal endothelial dystrophy, autosomal recessiveinfantile hereditary endothelial dystrophy