Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus
Mousa Al din Al Nassar Syndrome
Oculodental Syndrome Rutherfurd Syndrome
posterior polymorphous corneal dystrophy +
Progressive Bifocal Chorioretinal Atrophy
Reis-Bucklers corneal dystrophy
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. (DO)
Ribbonlike Corneal Degeneration with Deafness
Sammartino De Crecchio Syndrome
spondyloepiphyseal dysplasia with punctate corneal dystrophy
spondylometaphyseal dysplasia with corneal dystrophy
stromal dystrophy +
Sveinsson chorioretinal atrophy
Thiel-Behnke corneal dystrophy
Synonyms
Exact Synonyms:
CDB1
;
CDRB
;
RBCD
;
Reis-Bucklers dystrophy
;
anterior limiting membrane dystrophy type I
;
corneal dystrophy of Bowman layer, type 1
;
corneal dystrophy of Bowman layer, type I
;
corneal dystrophy, Reis-Bucklers type
;
geographic corneal dystrophy
;
granular corneal dystrophy type III