Term Name: | lattice corneal dystrophy |
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Synonyms: | familial amyloid neuropathy, Finnish type |
Definition: | An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and lattice line refractile and fleck-like opacification located_in the cornea, amyloid deposits beginning in the anterior stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased amyloid protein deposition and disruption of the corneal surface. |
Ontology: | Human Disease [DOID:8943] ( DOID:8943 ) |