Congenital stromal corneal dystrophy
| Congenital stromal corneal dystrophy | |
|---|---|
| Classification and external resources | |
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File:Congenital stromal corneal dystrophy.jpg The cornea is particularly opaque in the anterior stroma by slit-lamp biomicroscopy | |
| OMIM | 610048 |
Congenital stromal corneal dystrophy (CSCD), also called Witschel dystrophy, is an extremely rare, autosomal dominant form of human corneal dystrophy.[1] 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.[2] 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.
Genetics
CSCD is associated with a mutation in the gene that encodes the protein decorin, located at chromosome 12q22.[1] The disorder is inherited in an autosomal dominant manner,[1] 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.
References
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- ↑ 1.0 1.1 1.2 Lua error in package.lua at line 80: module 'Module:Citation/CS1/Suggestions' not found.
- ↑ Klintworth GK (2009). "Corneal dystrophies". Orphanet J Rare Dis. 4: 7. doi:10.1186/1750-1172-4-7. PMC 2695576 Freely accessible. PMID 19236704.
