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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 )
Relationships
is a type of
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Genes Involved
Zebrafish Models