granular corneal dystrophy 1

Term ID

DOID:0080530

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. https://pubmed.ncbi.nlm.nih.gov/8136834/

References

• MIM:121900

Ontology

Human Disease   ( DOID:0080530 )