Thiel-Behnke corneal dystrophy

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_bas

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.

Signs and symptoms

• Corneal dystrophy
• Photophobia
• Corneal scarring
• Juvenile epithelial corneal dystrophy

Also known as: TBCD; Waardenburg-Jonker corneal dystrophy; anterior limiting membrane dystrophy type II; corneal dystrophy honeycomb-shaped; corneal dystrophy of Bowman layer type II