Human genes for Thiel-Behnke corneal dystrophy
Thiel-Behnke corneal dystrophy [DOID:0060455]
An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and honeycomb-shaped opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea.
Synonyms: Thiel-Behnke corneal dystrophy, DOID:0060455, ThielBehnke corneal dystrophy, Thiel-Behnke corneal dystrophies, anterior limiting membrane dystrophy type II ...