Reis-Bucklers corneal dystrophy

Term ID

DOID:0060453

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. https://www.omim.org/entry/608470

References

• MESH:C535476
• OMIM:608470
• ORDO:98961
• SNOMEDCT_US_2023_03_01:231930000
• UMLS_CUI:C0339278

Ontology

Human Disease   ( DOID:0060453 )