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General Information
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| Term |
Reis-Bucklers corneal dystrophy |
ID (Ontology) |
DOID:0060453 (Human Disease) |
| 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. |
| Also Known As |
"anterior limiting membrane dystrophy type I" ; "corneal dystrophy of Bowman layer type I" ; "geographic corneal dystrophy" (for all, see Synonyms field below) |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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Reis-Bucklers corneal dystrophy | 3 | for disease ribbon | Reis-Bucklers corneal dystrophy | 3 | model of | Reis-Bucklers corneal dystrophy | 3 |
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Relationships