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lattice corneal dystrophy
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant disease epithelial-stromal TGFBI dystrophy
External Links
- Disease Ontology
- DOID:8943
- Mondo Disease Ontology
- MeSH
- OMIM
