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Congenital stromal corneal dystrophy

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Description

Congenital stromal corneal dystrophy is an inherited eye disorder. This condition primarily affects the cornea, which is the clear outer covering of the eye. In people with this condition, the cornea appears cloudy and may have an irregular surface. These corneal changes lead to visual impairment, including blurring, glare, and a loss of sharp vision (reduced visual acuity). Visual impairment is often associated with additional eye abnormalities, including "lazy eye" (amblyopia), eyes that do not look in the same direction (strabismus), involuntary eye movements (nystagmus), and increased sensitivity to light (photophobia).

Frequency

Congenital stromal corneal dystrophy is probably very rare; only a few affected families have been reported in the medical literature.

Causes

Congenital stromal corneal dystrophy is caused by mutations in the DCN gene. This gene provides instructions for making a protein called decorin, which is involved in the organization of collagens. Collagens are proteins that strengthen and support connective tissues such as skin, bone, tendons, and ligaments. In the cornea, well-organized bundles of collagen make the cornea transparent. Decorin ensures that collagen fibrils in the cornea are uniformly sized and regularly spaced.

Mutations in the DCN gene lead to the production of a defective version of decorin. This abnormal protein interferes with the organization of collagen fibrils in the cornea. As poorly arranged collagen fibrils accumulate, the cornea becomes cloudy. These corneal changes lead to reduced visual acuity and related eye abnormalities.

Inheritance

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

Other Names for This Condition

  • congenital hereditary stromal dystrophy of the cornea
  • congenital stromal dystrophy of the cornea
  • corneal dystrophy, congenital stromal
  • CSCD
  • DACS
  • decorin-associated congenital stromal corneal dystrophy
  • dystrophia corneae parenchymatosa congenita

Additional Information & Resources

Catalog of Genes and Diseases from OMIM

Scientific Articles on PubMed

References

  • Bredrup C, Knappskog PM, Majewski J, Rødahl E, Boman H. Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene. Invest Ophthalmol Vis Sci. 2005 Feb;46(2):420-6. Citation on PubMed
  • Cascieri MA, Bayne ML, Ber E, Green BG, Men GW, Chicchi GG. Identification of the insulin-like growth factor I (IGF I) epitopes recognized by monoclonal and polyclonal antibodies to IGF I. Endocrinology. 1990 Jun;126(6):2773-7. Citation on PubMed
  • Klintworth GK. Corneal dystrophies. Orphanet J Rare Dis. 2009 Feb 23;4:7. doi: 10.1186/1750-1172-4-7. Review. Citation on PubMed or Free article on PubMed Central
  • Rødahl E, Knappskog PM, Bredrup C, Boman H. Congenital Stromal Corneal Dystrophy. 2008 Nov 25 [updated 2018 Nov 29]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK2690/ Citation on PubMed
  • Van Ginderdeuren R, De Vos R, Casteels I, Foets B. Report of a new family with dominant congenital heredity stromal dystrophy of the cornea. Cornea. 2002 Jan;21(1):118-20. Citation on PubMed
  • Witschel H, Fine BS, Grützner P, McTigue JW. Congenital hereditary stromal dystrophy of the cornea. Arch Ophthalmol. 1978 Jun;96(6):1043-51. Citation on PubMed
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