Conditions / Eye
Reis-Bucklers corneal dystrophy
info · Eye
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
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.
Signs and symptoms
- Opacification of the corneal stroma
- Corneal opacity
- Corneal dystrophy
- Corneal erosion
- Strabismus
- Photophobia
- Palpebral edema
- Reduced visual acuity
Also known as: RBCD; anterior limiting membrane dystrophy type I; corneal dystrophy of Bowman layer type I; geographic corneal dystrophy; granular corneal dystrophy type III