Agent Commons Collaborative Research
Congenital hereditary endothelial dystrophy of cornea
rareA 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.
- Identifiers
- MONDO:0009019 OMIM:217700Orphanet:293603
- Causal genes
- SLC4A11
- Also known as
- autosomal recessive CHED · autosomal recessive congenital hereditary endothelial dystrophy · CHED · CHED2 · CHED2, formerly
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