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Reis-Bucklers corneal dystrophy

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Mondo Description Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment.
Uniprot Description A bilateral disorder of the cornea characterized by intermittent attacks of ocular irritation, recurrent painful corneal erosions starting in childhood, corneal opacities in a geographic pattern at the level of the Bowman layer, and a progressive decrease of visual acuity. The lesions are primarily in Bowman membrane with secondary involvement of the epithelium and superficial part of the stroma. Bowman membrane is almost completely replaced by pathologic materials including disoriented collagen fibrils.
Mondo Term and Equivalent IDs
MONDO:0012043:  Reis-Bucklers corneal dystrophy
GARD:0009276: 
MESH:C535476: 
Orphanet:98961: 
SCTID:231930000: 
UMLS:C0339278: