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Description
Congenital stromal corneal dystrophy is an inherited eye disorder that primarily affects the clear layer that covers the front surface of the eye (cornea). Affected individuals have multiple corneal opacities, which are damaged areas that cause the cornea to appear cloudy or opaque rather than transparent. These corneal opacities form in the thickest layer of the cornea (stroma) and are typically present in both eyes (bilateral) from birth or soon thereafter. The corneas of affected individuals may also be thicker than normal and have an irregular surface. These corneal changes lead to a loss of visual acuity, which can impair a person’s ability to see clearly. Without treatment, visual acuity can worsen over time.
Congenital stromal corneal dystrophy is often associated with additional eye abnormalities, including eyes that do not look in the same direction (strabismus) and "lazy eye" (amblyopia). Less commonly, affected individuals may have involuntary eye movements (nystagmus) or increased sensitivity to light (photophobia).
Frequency
Congenital stromal corneal dystrophy is rare; only a few affected families have been reported in the medical literature.
Causes
Congenital stromal corneal dystrophy is caused by variants (also called 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. Collagens also play an important role in the cornea. Bundles of collagen called fibrils must be strictly organized for the cornea to be transparent. Decorin helps ensure that these collagen fibrils are the right size and are regularly spaced.
The variants in the DCN gene that cause congenital stromal corneal dystrophy lead to the production of an abnormal version of decorin that does not function as it should. Researchers believe that this abnormal protein accumulates in the cornea, which causes the cornea to become cloudy. The accumulation of abnormal decorin may also lead to the other eye abnormalities seen in people with congenital stromal corneal dystrophy.
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. Some cases of this condition likely result from new (de novo) variants in the gene that occur during the formation of reproductive cells (eggs or sperm) in an affected individual's parent or during early embryonic development. These affected individuals typically have no history of the disorder in their family.
Other Names for This Condition
- Congenital hereditary stromal dystrophy of the cornea
- Congenital stromal dystrophy of the cornea
- CSCD
- Decorin-associated congenital stromal corneal dystrophy
- Dystrophia corneae parenchymatosa congenita
- Witschel dystrophy
Additional Information & Resources
Genetic Testing Information
Patient Support and Advocacy Resources
Catalog of Genes and Diseases from OMIM
Scientific Articles on PubMed
References
- Bredrup C, Knappskog PM, Majewski J, Rodahl 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. doi: 10.1167/iovs.04-0804. Citation on PubMed
- Bredrup C, Stang E, Bruland O, Palka BP, Young RD, Haavik J, Knappskog PM, Rodahl E. Decorin accumulation contributes to the stromal opacities found in congenital stromal corneal dystrophy. Invest Ophthalmol Vis Sci. 2010 Nov;51(11):5578-82. doi: 10.1167/iovs.09-4933. Epub 2010 May 19. 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. doi: 10.1210/endo-126-6-2773. Citation on PubMed
- Klintworth GK. Corneal dystrophies. Orphanet J Rare Dis. 2009 Feb 23;4:7. doi: 10.1186/1750-1172-4-7. Citation on PubMed or Free article on PubMed Central
- Rodahl E, Knappskog PM, Bredrup C, Boman H. Congenital Stromal Corneal Dystrophy. 2008 Nov 25 [updated 2018 Nov 29]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. 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. doi: 10.1097/00003226-200201000-00025. Citation on PubMed
- Witschel H, Fine BS, Grutzner P, McTigue JW. Congenital hereditary stromal dystrophy of the cornea. Arch Ophthalmol. 1978 Jun;96(6):1043-51. doi: 10.1001/archopht.1978.03910050563015. Citation on PubMed
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