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Genetics Home Reference: your guide to understanding genetic conditions
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Congenital stromal corneal dystrophy

Reviewed August 2009

What is congenital stromal corneal dystrophy?

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).

How common is congenital stromal corneal dystrophy?

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

What genes are related to congenital stromal corneal dystrophy?

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.

Related Gene(s)

Changes in this gene are associated with congenital stromal corneal dystrophy.

  • DCN

How do people inherit congenital stromal corneal dystrophy?

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.

In most cases, an affected person has one parent with the condition.

Where can I find information about diagnosis or management of congenital stromal corneal dystrophy?

These resources address the diagnosis or management of congenital stromal corneal dystrophy and may include treatment providers.

  • Gene Review: Congenital Stromal Corneal Dystrophy (http://www.ncbi.nlm.nih.gov/books/NBK2690/)
  • Genetic Testing Registry: Congenital Stromal Corneal Dystrophy (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1864738)
  • MedlinePlus Encyclopedia: Cloudy Cornea (http://www.nlm.nih.gov/medlineplus/ency/article/003317.htm)

You might also find information on the diagnosis or management of congenital stromal corneal dystrophy in Educational resources (http://www.ghr.nlm.nih.gov/condition/congenital-stromal-corneal-dystrophy/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/congenital-stromal-corneal-dystrophy/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about congenital stromal corneal dystrophy?

You may find the following resources about congenital stromal corneal dystrophy helpful. These materials are written for the general public.

  • MedlinePlus - Health information

    • Encyclopedia: Cloudy Cornea (http://www.nlm.nih.gov/medlineplus/ency/article/003317.htm)
    • Health Topic: Corneal Disorders (http://www.nlm.nih.gov/medlineplus/cornealdisorders.html)
    • Health Topic: Eye Diseases (http://www.nlm.nih.gov/medlineplus/eyediseases.html)

  • Additional NIH Resources - National Institutes of Health

    • National Eye Institute: Facts about the Cornea and Corneal Disease (http://www.nei.nih.gov/health/cornealdisease/)
    • National Eye Institute: Low Vision (http://www.nei.nih.gov/health/lowvision/)
  • Educational resources - Information pages
    Cleveland Clinic: Corneal Conditions (http://my.clevelandclinic.org/disorders/Corneal_Disease/hic_Corneal_Conditions.aspx)

  • Patient support - For patients and families

    • Family Village: Blindness / Visual Impairments (http://www.familyvillage.wisc.edu/lib_blnd.htm)
    • Lighthouse International (http://lighthouse.org/navh)
    • National Association for Parents of Children with Visual Impairments (NAPVI) (http://www.spedex.com/napvi/)
    • National Organization for Rare Disorders (NORD) (http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/455/viewAbstract)
    • Resource list from the University of Kansas Medical Center: Blindness / Visual Impairment (http://www.kumc.edu/gec/support/visual.html)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK2690/)

  • Genetic Testing Registry - Repository of genetic test information

    • Genetic Testing Registry: Congenital Stromal Corneal Dystrophy (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1864738)
  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((congenital%20%5BTIAB%5D%20OR%20hereditary%20%5BTIAB%5D)%20AND%20(stromal%5BTI%5D)%20AND%20(corneal%5BTIAB%5D)%20AND%20(dystrophy%5BTIAB%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/610048)

What other names do people use for congenital stromal corneal dystrophy?

  • 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

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about congenital stromal corneal dystrophy?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding congenital stromal corneal dystrophy?

amblyopia ; autosomal ; autosomal dominant ; cell ; collagen ; congenital ; cornea ; gene ; involuntary ; lazy eye ; nystagmus ; photophobia ; protein ; sensitivity ; strabismus ; visual acuity

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

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. (http://www.ncbi.nlm.nih.gov/pubmed/15671264?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/1693561?dopt=Abstract)
  • Gene Review: Congenital Stromal Corneal Dystrophy (http://www.ncbi.nlm.nih.gov/books/NBK2690/)
  • Klintworth GK. Corneal dystrophies. Orphanet J Rare Dis. 2009 Feb 23;4:7. doi: 10.1186/1750-1172-4-7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19236704?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/11805522?dopt=Abstract)
  • Witschel H, Fine BS, Grützner P, McTigue JW. Congenital hereditary stromal dystrophy of the cornea. Arch Ophthalmol. 1978 Jun;96(6):1043-51. (http://www.ncbi.nlm.nih.gov/pubmed/350201?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: August 2009
Published: May 20, 2013