Term Name: | granular corneal dystrophy 1 |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:0080530] ( DOID:0080530 ) |