| Granular Dystrophy Type II (called Avellino Dystrophy) | |
| The colour image showing amyloid deposits, localized in the anterior stroma. Amyloid deposits are found in many corneal dystrophies, including lattice dystrophy type I, IA, II, IIIA, IIIB, IV, V, VI and VII and granular dystrophy type II, also called Avellino dystrophy. In Avellino corneal dystrophy amyloid is found as in other corneal dystrophies, including distinct lattice corneal dystrophies. The amyloid deposits are localized in the subepithelial pannus and in the anterior stroma. Recently, point mutations in the transforming growth factor-beta-induced gene (TGFBI) encoding for keratoepithelin (KE) have been demonstrated. Mutations of the BIGH3 gene were delineated as the underlying gene defect for corneal dystrophy Lattice Type I (CDL1) and corneal dystrophy Avellino type (CDA). As hot spots are described missense mutations in exon 4 with single base pair substitution which result in amino acid alterations Arg124Cys (CDL1) and ARG124His. | |
| Bachmann, Björn, Dr.med., Augenklinik, Universität Erlangen-Nürnberg, Erlangen, Deutschland | |
| H18.5 | |
| Cornea -> Dystrophies, Hereditary Keratopathies, Bilateral -> Stromal Dystrophies -> Granular Dystrophy Type II (called Avellino Dystrophy) | |
| Avelino Dystrophy, colour image, granular cornea dystrophy, corneal dystrophy type II, Avellino Dystrophy | |
| 9009 |
|
|||||||||||||||
|
Granular Dystrophy Type II (called Avellino Dystrophy)-------------------------- -------------------------- -------------------------- -------------------------- -------------------------- -------------------------- -------------------------- -------------------------- -------------------------- -------------------------- -------------------------- -------------------------- |
|
|||||||||||||