Congenital Stromal Corneal Dystrophy

In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
[updated ].


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 are seen throughout the stroma of the entire cornea and give the cornea a cloudy appearance. Strabismus is common. Nystagmus is uncommon. Amblyopia can develop in children.

Diagnosis/testing: The diagnosis of congenital stromal corneal dystrophy is established in an individual with bilateral corneal opacities and characteristic findings on transmission electron microscopy. Identification of a heterozygous pathogenic variant in DCN by molecular genetic testing can confirm the diagnosis.

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

Surveillance: Routine ophthalmologic examination with visual acuity at least every year in children; regular surveillance in adults as needed in those treated with 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 pathogenic variant. If the variant has been identified in an affected family member, prenatal testing for a pregnancy at risk is possible.

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