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granular corneal dystrophy 1
Summary
- Synonym
-
- corneal dystrophy, Groenouw type I
- Definition
- A granular corneal dystrophy that is characterized by recurrent erosions and gray crumb-like opacification located_in the cornea, proteinaceous rock candy-like deposits in the anterior stroma and subepithelium, and progressive vision loss later in life as deposits move into the central vision, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption of the corneal surface.
- Super Class
- granular corneal dystrophy
External Links
- Disease Ontology
- DOID:0080530
- Mondo Disease Ontology
- OMIM
