| 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 | |
| Synonyms |
familial amyloid neuropathy, Finnish type [EXACT] |
| Parent Relationships |