Search Ontology:
Human Disease
lattice corneal dystrophy
- Term ID
- DOID:8943
- 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. (2)
- References
- Ontology
- Human Disease ( DOID:8943 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models