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

• MESH:C537935
• OMIM:122200

Ontology

Human Disease   ( DOID:8943 )