GTR Home > Conditions/Phenotypes > Congenital Stromal Corneal Dystrophy

Disease characteristics

Excerpted from the GeneReview: Congenital Stromal Corneal Dystrophy
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.

Available tests

2 tests are in the database for this condition. Compare labs offering these tests.

Check Associated genes for additional relevant tests.

Associated genes

Clinical features

Help
  • Progressive visual loss
  • Glaucoma
  • Strabismus
  • Congenital corneal dystrophy

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Write to the Help Desk