- Congenital stromal corneal dystrophy
Congenital stromal corneal dystrophy Classification and external resources
The cornea is particularly opaque in the anterior stroma by slit-lamp biomicroscopy
Congenital stromal corneal dystrophy (CSCD), also called Witschel dystrophy, is an extremely rare, autosomal dominant form of human corneal dystrophy. It is non-progressive and is linked to mutations in DCN gene encoding decorin protein. Only 4 families have been reported to have the disease by 2009. The main features of the disease are numerous opaque flaky or feathery areas of clouding in the stroma that multiply with age and eventually preclude visibility of the endothelium. Strabismus or primary open angle glaucoma was noted in some of the patients. Thickness of the cornea stays the same, Descemet's membrane and endothelium are relatively unaffected, but the fibrills of collagen that constitute stromal lamellae are reduced in diameter and lamellae themselves are packed significantly more tightly.
CSCD is associated with a mutation in the gene that encodes the protein decorin, located at chromosome 12q22. The disorder is inherited in an autosomal dominant manner, which indicates that the defective gene responsible for a disorder is located on an autosome (chromosome 12 is an autosome), and only one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.
- ^ a b c Bredrup, C.; Knappskog, P. M.; Majewski, J.; Rødahl, E.; Boman, H. (February 2005). "Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene" (Free full text). Invest Ophthalmol Vis Sci. 46 (2): 420–426. doi:10.1167/iovs.04-0804. PMID 15671264. http://www.iovs.org/cgi/content/full/46/2/420.
- ^ Klintworth GK (2009). "Corneal dystrophies". Orphanet J Rare Dis 4: 7. doi:10.1186/1750-1172-4-7. PMC 2695576. PMID 19236704. http://www.ojrd.com/content/4//7.
Types of human corneal dystrophy (H18.5, 371.5) Epithelial and SubepithelialEpithelial basement membrane dystrophy (OMIM 121820), called a corneal dystrophy but in reality this condition is not inherited in the majority of cases, representing a non-specific reaction to a variety of corneal insults. · Subepithelial mucinous corneal dystrophy · Meesmann juvenile epithelial corneal dystrophy (MECD, Stocker-Holt dystrophy, OMIM 122100) · Lisch epithelial dystrophy · Gelatinous drop-like corneal dystrophy Bowman layerReis-Bucklers corneal dystrophy (CDB1) aka. Granular corneal dystrophy type III · Thiel-Behnke dystrophy (CDB2) StromaLattice corneal dystrophy type I · Lattice corneal dystrophy type II · Granular corneal dystrophy type I · Granular corneal dystrophy type II · Also Granular corneal dystrophy type III see Reis-Bucklers corneal dystrophy above · Macular corneal dystrophy · Schnyder corneal dystrophy · Congenital stromal dystrophy (CSCD) · Fleck dystrophy · Posterior amorphous corneal dystrophy Descemet membrane and Endothelial
Genetic disorder, extracellular: scleroprotein disease (excluding laminin and keratin) Collagen disease
COL2: Hypochondrogenesis · Achondrogenesis type 2 · Stickler syndrome · Marshall syndrome · Spondyloepiphyseal dysplasia congenita · Spondyloepimetaphyseal dysplasia, Strudwick type · Kniest dysplasia (see also C2/11)
COL3: Ehlers–Danlos syndrome, types 3 & 4 (Sack–Barabas syndrome)
COL4: Alport syndrome
COL7: Epidermolysis bullosa dystrophica · Recessive dystrophic epidermolysis bullosa · Bart syndrome · Transient bullous dermolysis of the newborn
COL8: Fuchs' dystrophy 1
COL10: Schmid metaphyseal chondrodysplasiaBullous pemphigoid
LamininJunctional epidermolysis bullosa · Laryngoonychocutaneous syndrome Other see also fibrous proteins
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk
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