| Metadata | |
|---|---|
| ID | DOID:0060453 |
| Name | Reis-Bucklers corneal dystrophy |
| 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. https://www.omim.org/entry/608470 |
| Xrefs |
SNOMEDCT_US_2023_03_01:231930000 |
| Subsets |
DO_rare_slim |
| Synonyms |
anterior limiting membrane dystrophy type I [EXACT] corneal dystrophy of Bowman layer type I [EXACT] geographic corneal dystrophy [EXACT] granular corneal dystrophy type III [EXACT] RBCD [EXACT] |
| Parent Relationships |