Term Name: | Reis-Bucklers corneal dystrophy |
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Synonyms: | anterior limiting membrane dystrophy type I, corneal dystrophy of Bowman layer type I, geographic corneal dystrophy, granular corneal dystrophy type III, RBCD |
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. |
Ontology: | Human Disease [DOID:0060453] ( DOID:0060453 ) |