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Metadata
ID DOID:8943
Name 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.
https://webeye.ophth.uiowa.edu/eyeforum/cases/43-corneal-stromal-dystrophies.htm, https://www.omim.org/entry/122200
Xrefs

MESH:C537935

MIM:122200

Synonyms

familial amyloid neuropathy, Finnish type [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a epithelial-stromal TGFBI dystrophy

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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