OBO ID: DOID:8943
Term Name: lattice corneal dystrophy Search Ontology:
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)
OTHER lattice corneal dystrophy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TGFBI Corneal dystrophy, lattice type I 122200
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None