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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

MESH:C535476

OMIM:608470

ORDO:98961

SNOMEDCT_US_2023_03_01:231930000

UMLS_CUI:C0339278

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

is_a epithelial-stromal TGFBI dystrophy

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