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Metadata
ID DOID:0080530
Name granular corneal dystrophy 1
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.
https://omim.org/entry/121900?search=121900&highlight=121900
Xrefs

OMIM:121900

Synonyms

corneal dystrophy, Groenouw type I [EXACT]

Parent Relationships

is_a granular corneal dystrophy

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