IC3D classification of corneal dystrophies-edition 2

Jayne S. Weiss, Hans Ulrik Møller, Anthony J. Aldave, Berthold Seitz, Cecilie Bredrup, Tero Kivelä, Francis L. Munier, Christopher J. Rapuano, Kanwal K. Nischal, Eung Kweon Kim, John Sutphin, Massimo Busin, Antoine Labbé, Kenneth R. Kenyon, Shigeru Kinoshita, Walter Lisch

Research output: Contribution to journalArticle

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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.

Original languageEnglish
Pages (from-to)117-159
Number of pages43
JournalCornea
Volume34
Issue number2
DOIs
Publication statusPublished - 2015 Feb 1

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Chromosomes
Chromosomes, Human, Pair 20
Confocal Microscopy
Thiel-Behnke type Corneal dystrophy
Epithelial Recurrent Erosion Dystrophy
Corneal Dystrophy, Posterior Polymorphous, 1

All Science Journal Classification (ASJC) codes

  • Ophthalmology

Cite this

Weiss, J. S., Møller, H. U., Aldave, A. J., Seitz, B., Bredrup, C., Kivelä, T., ... Lisch, W. (2015). IC3D classification of corneal dystrophies-edition 2. Cornea, 34(2), 117-159. https://doi.org/10.1097/ICO.0000000000000307
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. / IC3D classification of corneal dystrophies-edition 2. In: Cornea. 2015 ; Vol. 34, No. 2. pp. 117-159.
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Weiss, JS, Møller, HU, Aldave, AJ, Seitz, B, Bredrup, C, Kivelä, T, Munier, FL, Rapuano, CJ, Nischal, KK, Kim, EK, Sutphin, J, Busin, M, Labbé, A, Kenyon, KR, Kinoshita, S & Lisch, W 2015, 'IC3D classification of corneal dystrophies-edition 2', Cornea, vol. 34, no. 2, pp. 117-159. https://doi.org/10.1097/ICO.0000000000000307

IC3D classification of corneal dystrophies-edition 2. / 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.

In: Cornea, Vol. 34, No. 2, 01.02.2015, p. 117-159.

Research output: Contribution to journalArticle

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T1 - IC3D classification of corneal dystrophies-edition 2

AU - Weiss, Jayne S.

AU - Møller, Hans Ulrik

AU - Aldave, Anthony J.

AU - Seitz, Berthold

AU - Bredrup, Cecilie

AU - Kivelä, Tero

AU - Munier, Francis L.

AU - Rapuano, Christopher J.

AU - Nischal, Kanwal K.

AU - Kim, Eung Kweon

AU - Sutphin, John

AU - Busin, Massimo

AU - Labbé, Antoine

AU - Kenyon, Kenneth R.

AU - Kinoshita, Shigeru

AU - Lisch, Walter

PY - 2015/2/1

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N2 - 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.

AB - 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.

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Weiss JS, Møller HU, Aldave AJ, Seitz B, Bredrup C, Kivelä T et al. IC3D classification of corneal dystrophies-edition 2. Cornea. 2015 Feb 1;34(2):117-159. https://doi.org/10.1097/ICO.0000000000000307