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

Autor: Colino Gallardo AM; Hospital Universitario Clínico San Carlos., De la Torre Serrano M; Hospital Universitario Clínico San Carlos., Alarcón García L; Hospital Universitario Clínico San Carlos., Casado Fariñas I; Hospital Universitario Clínico San Carlos., De Pablo Velasco D; Hospital Universitario Clínico San Carlos., Martínez-Useros J; Translational Oncology Division, OncoHealth Institute, Health Research Institute-Fundación Jimenez Diaz University Hospital, Madrid, Spain., Barderas R; Translational Oncology Division, OncoHealth Institute, Health Research Institute-Fundación Jimenez Diaz University Hospital, Madrid, Spain., Fernández-Aceñero MJ; Hospital Universitario Clínico San Carlos.
Jazyk: angličtina
Zdroj: Applied immunohistochemistry & molecular morphology : AIMM [Appl Immunohistochem Mol Morphol] 2023 Nov-Dec 01; Vol. 31 (10), pp. 682-689. Date of Electronic Publication: 2023 Sep 20.
DOI: 10.1097/PAI.0000000000001156
Abstrakt: 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.
Competing Interests: The authors declare no conflicts of interest.
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Databáze: MEDLINE