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Reis-Bucklers corneal dystrophy
Summary
- Synonym
-
- RBCD
- anterior limiting membrane dystrophy type I
- corneal dystrophy of Bowman layer type I
- geographic corneal dystrophy
- granular corneal dystrophy type III
- Definition
- An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and irregular geographic opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in 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.
- Super Class
- epithelial-stromal TGFBI dystrophy
External Links
- Disease Ontology
- DOID:0060453
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
