IC3D Classification of Corneal Dystrophies—Edition 2. Issue 2 (February 2015)

• Record Type: Journal Article
• Authors: Weiss, Jayne S.; Møller, Hans Ulrik; Aldave, Anthony J.; Seitz, Berthold; Bredrup, Cecilie; Kivelä, Tero; Munier, Francis L.; Rapuano, Christopher J.; Nischal, Kanwal K.; Kim, Eung Kweon; Sutphin, John; Busin, Massimo; Labbé, Antoine; Kenyon, Kenneth R.; Kinoshita, Shigeru; Lisch, Walter
• Is Part Of: Cornea. Volume 34:Issue 2(2015)
• Publication Date: 2015-02
• Subjects: cornea -- cornea dystrophy -- cornea pathology -- cornea -- genetics -- genetic disease -- hereditary disease -- confocal microscopy -- histopathology -- epithelium -- Bowman membrane -- stroma -- Descemet membrane -- endothelium -- TGFBI -- epithelial and subepithelial dystrophies -- epithelial-stromal TGFBI dystrophies -- stromal dystrophies -- endothelial dystrophies -- keratoconus -- epithelial basement membrane dystrophy -- epithelial recurrent erosion dystrophies -- subepithelial mucinous corneal dystrophy -- Meesmann dystrophy -- gelatinous drop-like corneal dystrophy -- Reis–Bücklers corneal dystrophy -- Thiel-Behnke corneal dystrophy -- Lisch epithelial corneal dystrophy -- lattice corneal dystrophy -- granular corneal dystrophy type 1 -- granular corneal dystrophy type 2 -- macular corneal dystrophy -- Schnyder corneal dystrophy -- congenital stromal corneal dystrophy -- fleck corneal dystrophy -- posterior amorphous corneal dystrophy -- central cloudy dystrophy of François -- pre–Descemet corneal dystrophy -- Fuchs endothelial corneal dystrophy -- posteror polymorphous corneal dystrophy -- congenital corneal endothelial dystrophy and X–linked endothelial dystrophy -- histology -- confocal microscopy; Cornea -- Periodicals; Cornea -- Periodicals; Cornée -- Périodiques; 617.719
• DOI: 10.1097/ICO.0000000000000307
• Languages: English
• ISSNs: 0277-3740

Abstract

Abstract : Purpose: To update the 2008 International Classification of Corneal Dystrophies (IC3D) incorporating new clinical, histopathologic, and genetic information. Methods: The IC3D reviewed worldwide peer-reviewed articles for new information on corneal dystrophies published between 2008 and 2014. Using this information, corneal dystrophy templates and anatomic classification were updated. New clinical, histopathologic, and confocal photographs were added. Results: On the basis of revisiting the cellular origin of corneal dystrophy, a modified anatomic classification is proposed consisting of (1) epithelial and subepithelial dystrophies, (2) epithelial–stromal TGFBI dystrophies, (3) stromal dystrophies, and (4) endothelial dystrophies. Most of the dystrophy templates are updated. The entity "Epithelial recurrent erosion dystrophies" actually includes a number of potentially distinct epithelial dystrophies (Franceschetti corneal dystrophy, Dystrophia Smolandiensis, and Dystrophia Helsinglandica) but must be differentiated from dystrophies such as TGFBI -induced dystrophies, which are also often associated with recurrent epithelial erosions. The chromosome locus of Thiel-Behnke corneal dystrophy is only located on 5q31. The entity previously designated as a variant of Thiel-Behnke corneal dystrophy on chromosome 10q24 may represent a novel corneal dystrophy. Congenital hereditary endothelial dystrophy (CHED, formerly CHED2) is most likely only an autosomal recessive disorder. The so-called autosomal dominant inherited CHED (formerly CHED1) is insufficiently distinct to continue to be considered a unique corneal dystrophy. On review of almost all of the published cases, the description appeared most similar to a type of posterior polymorphous corneal dystrophy linked to the same chromosome 20 locus (PPCD1). Confocal microscopy also has emerged as a helpful tool to reveal in vivo features of several corneal dystrophies that previously required histopathologic examination to definitively diagnose. Conclusions: This revision of the IC3D classification includes an updated anatomic classification of corneal dystrophies more accurately classifying TGFBI dystrophies that affect multiple layers rather than are confined to one corneal layer. Typical histopathologic and confocal images have been added to the corneal dystrophy templates.