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Congenital stromal corneal dystrophy

AI overview

Congenital stromal corneal dystrophy (CSCD) is an extremely rare, autosomal dominant form of corneal dystrophy.

Key points
  • CSCD is extremely rare, with only 4 families reported by 2009.
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    Only 4 families have been reported to have the disease by 2009.
  • The disorder is inherited in an autosomal dominant manner.
    source quote
    The disorder is inherited in an autosomal dominant manner
Symptoms
  • Numerous opaque flaky or feathery areas of clouding appear in the stroma.
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    numerous opaque flaky or feathery areas of clouding in the stroma
  • The clouding multiplies with age and eventually precludes visibility of the endothelium.
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    multiply with age and eventually preclude visibility of the endothelium
  • Strabismus or primary open angle glaucoma may occur in some patients.
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    Strabismus or primary open angle glaucoma was noted in some of the patients.
  • Corneal thickness remains unchanged.
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    Thickness of the cornea stays the same
  • Collagen fibrils in stromal lamellae are reduced in diameter and lamellae are packed more tightly.
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    the fibrils of collagen that constitute stromal lamellae are reduced in diameter and lamellae themselves are packed significantly more tightly
AI-synthesized from the Wikipedia article “Congenital stromal corneal dystrophy”. Not medical advice. Verify source →
Congenital stromal corneal dystrophy
Other namesWitschel dystrophy
The cornea is particularly opaque in the anterior stroma by slit-lamp biomicroscopy.
Congenital stromal dystrophy. Transmission electron microscopy of the corneal stroma showing normal collagen lamellae separated by abnormal randomly distributed collagen filaments in an electron-lucent extracellular matrix.

Congenital stromal corneal dystrophy (CSCD) is an extremely rare, autosomal dominant form of corneal 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 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 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 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.[citation needed]

  1. 1 2 3 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.
  2. ↑ Klintworth GK (2009). "Corneal dystrophies". Orphanet J Rare Dis. 4: 7. doi:10.1186/1750-1172-4-7. PMC 2695576. PMID 19236704.