Thiel-Behnke corneal dystrophy

Term ID

DOID:0060455

Synonyms

• anterior limiting membrane dystrophy type II
• corneal dystrophy honeycomb-shaped
• corneal dystrophy of Bowman layer type II
• TBCD
• Waardenburg-Jonker corneal dystrophy

Definition

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. https://www.omim.org/entry/602082

References

• MESH:C535942
• OMIM:602082
• ORDO:98960
• SNOMEDCT_US_2023_03_01:417065002
• UMLS_CUI:C1562894

Ontology

Human Disease   ( DOID:0060455 )