| Congenital stromal corneal dystrophy | |
|---|---|
| Other names | Witschel dystrophy |
 | |
| The cornea is particularly opaque in the anterior stroma by slit-lamp biomicroscopy. | |
Congenital stromal corneal dystrophy (CSCD) is an extremely rare,autosomaldominant form ofcorneal dystrophy.[1] 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 angleglaucoma was noted in some of the patients. Thickness of the cornea stays the same, Descemet's membrane and endothelium are relatively unaffected, but the fibrils of collagen that constitute stromal lamellae are reduced in diameter and lamellae themselves are packed significantly more tightly.[citation needed]
CSCD is associated with a mutation in the gene DCN that encodes the proteindecorin, located atchromosome12q22.[1] The disorder is inherited in an autosomal dominant manner,[1] which indicates that the defective gene responsible for a disorder is located on anautosome (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.[citation needed]
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