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Congenital Stromal Corneal Dystrophy.

Source

GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
2008 Nov 25 [updated 2012 Feb 02].

Excerpt

CLINICAL CHARACTERISTICS:

Congenital stromal corneal dystrophy is characterized by the presence of bilateral corneal opacities that can be seen at or shortly after birth. The surface of the cornea is normal or slightly irregular; small opacities seen throughout the stroma of the entire cornea give the cornea a cloudy appearance. Strabismus is common. Nystagmus is uncommon. Most individuals undergo penetrating keratoplasty in late adolescence or early adulthood with good results.

DIAGNOSIS/TESTING:

DCN, encoding decorin, is the only gene in which mutations are known to cause congenital stromal corneal dystrophy.

MANAGEMENT:

Treatment of manifestations: Spectacles or contact lenses for correction of refractive errors; patching and/or surgical correction of strabismus; penetrating keratoplasty.

GENETIC COUNSELING:

Congenital stromal corneal dystrophy is inherited in an autosomal dominant manner. Most individuals diagnosed with congenital stromal corneal dystrophy have an affected parent. Each child of an affected individual has a 50% chance of inheriting the mutation. If the disease-causing mutation has been identified in an affected family member, prenatal testing for at-risk pregnancies is possible through laboratories offering either prenatal testing for the gene of interest or custom testing.

Copyright © 1993-2015, University of Washington, Seattle. All rights reserved.

PMID:
20301741
[PubMed]
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