Histopathologic Changes in Congenital Corneal Stromal Dystrophy: Report of 4 Cases in 2 Families

Appl Immunohistochem Mol Morphol. 2023 Nov-Dec;31(10):682-689. doi: 10.1097/PAI.0000000000001156. Epub 2023 Sep 20.

Abstract

Corneal dystrophies are hereditary diseases affecting the corneal tissue; they are bilateral, symmetrical and unrelated to environmental or systemic conditions. Congenital corneal stromal dystrophy is a very rare autosomal dominant dystrophy that is caused by a mutation in the DCN gene that encodes decorin (a proteoglycan of the extracellular matrix). We herein report 4 cases of congenital stromal corneal dystrophy in 2 families, highlighting the previously undescribed histopathologic features, the possible differential diagnosis of this entity and the key role played by decorin staining in its diagnosis.

Publication types

  • Case Reports

MeSH terms

  • Corneal Dystrophies, Hereditary* / diagnosis
  • Corneal Dystrophies, Hereditary* / genetics
  • Corneal Dystrophies, Hereditary* / pathology
  • Decorin / genetics
  • Extracellular Matrix / pathology
  • Humans
  • Mutation

Substances

  • Decorin