Version: 8.0.0
Date: Tue Jan 28 2025
lattice corneal dystrophy
DOID:8943
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

lattice corneal dystrophy

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.
Synonyms
  • familial amyloid neuropathy, Finnish type
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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