Literature DB >> 19337156

The IC3D classification of the corneal dystrophies.

Jayne S Weiss1, H U Møller, Walter Lisch, Shigeru Kinoshita, Anthony J Aldave, Michael W Belin, Tero Kivelä, Massimo Busin, Francis L Munier, Berthold Seitz, John Sutphin, Cecilie Bredrup, Mark J Mannis, Christopher J Rapuano, Gabriel Van Rij, Eung Kweon Kim, Gordon K Klintworth.   

Abstract

BACKGROUND: The recent availability of genetic analyses has demonstrated the shortcomings of the current phenotypic method of corneal dystrophy classification. Abnormalities in different genes can cause a single phenotype, whereas different defects in a single gene can cause different phenotypes. Some disorders termed corneal dystrophies do not appear to have a genetic basis.
PURPOSE: The purpose of this study was to develop a new classification system for corneal dystrophies, integrating up-to-date information on phenotypic description, pathologic examination, and genetic analysis.
METHODS: The International Committee for Classification of Corneal Dystrophies (IC3D) was created to devise a current and accurate nomenclature.
RESULTS: This anatomic classification continues to organize dystrophies according to the level chiefly affected. Each dystrophy has a template summarizing genetic, clinical, and pathologic information. A category number from 1 through 4 is assigned, reflecting the level of evidence supporting the existence of a given dystrophy. The most defined dystrophies belong to category 1 (a well-defined corneal dystrophy in which a gene has been mapped and identified and specific mutations are known) and the least defined belong to category 4 (a suspected dystrophy where the clinical and genetic evidence is not yet convincing). The nomenclature may be updated over time as new information regarding the dystrophies becomes available.
CONCLUSIONS: The IC3D Classification of Corneal Dystrophies is a new classification system that incorporates many aspects of the traditional definitions of corneal dystrophies with new genetic, clinical, and pathologic information. Standardized templates provide key information that includes a level of evidence for there being a corneal dystrophy. The system is user-friendly and upgradeable and can be retrieved on the website www.corneasociety.org/ic3d.

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Year:  2008        PMID: 19337156      PMCID: PMC2866169          DOI: 10.1097/ICO.0b013e31817780fb

Source DB:  PubMed          Journal:  Cornea        ISSN: 0277-3740            Impact factor:   2.651


  268 in total

1.  Report of a new family with dominant congenital heredity stromal dystrophy of the cornea.

Authors:  Rita Van Ginderdeuren; Rita De Vos; Ingele Casteels; Bea Foets
Journal:  Cornea       Date:  2002-01       Impact factor: 2.651

2.  Late-onset form of lattice corneal dystrophy caused by leu527Arg mutation of the TGFBI gene.

Authors:  K Hirano; Y Hotta; M Nakamura; K Fujiki; A Kanai; N Yamamoto
Journal:  Cornea       Date:  2001-07       Impact factor: 2.651

3.  Differences in amyloid deposition in primary and recurrent corneal lattice dystrophy type 1.

Authors:  David R J Snead; B Non Mathews
Journal:  Cornea       Date:  2002-04       Impact factor: 2.651

4.  A novel mutation in the M1S1 gene responsible for gelatinous droplike corneal dystrophy.

Authors:  G Tasa; J Kals; K Muru; E Juronen; A Piirsoo; S Veromann; S Jänes; A V Mikelsaar; A Lang
Journal:  Invest Ophthalmol Vis Sci       Date:  2001-11       Impact factor: 4.799

5.  Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy.

Authors:  S Biswas; F L Munier; J Yardley; N Hart-Holden; R Perveen; P Cousin; J E Sutphin; B Noble; M Batterbury; C Kielty; A Hackett; R Bonshek; A Ridgway; D McLeod; V C Sheffield; E M Stone; D F Schorderet; G C Black
Journal:  Hum Mol Genet       Date:  2001-10-01       Impact factor: 6.150

Review 6.  A revised nomenclature for allergy. An EAACI position statement from the EAACI nomenclature task force.

Authors:  S G Johansson; J O Hourihane; J Bousquet; C Bruijnzeel-Koomen; S Dreborg; T Haahtela; M L Kowalski; N Mygind; J Ring; P van Cauwenberge; M van Hage-Hamsten; B Wüthrich
Journal:  Allergy       Date:  2001-09       Impact factor: 13.146

7.  Histologic phenotype-genotype correlation of corneal dystrophies associated with eight distinct mutations in the TGFBI gene.

Authors:  P Dighiero; F Niel; P Ellies; F D'Hermies; M Savoldelli; G Renard; M Delpech; S Valleix
Journal:  Ophthalmology       Date:  2001-04       Impact factor: 12.079

8.  Immunohistology of kerato-epithelin in corneal stromal dystrophies associated with R124 mutations of the BIGH3 gene.

Authors:  M Konishi; M Yamada; Y Nakamura; Y Mashima
Journal:  Curr Eye Res       Date:  2000-11       Impact factor: 2.424

9.  Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy.

Authors:  Mohamed F El-Ashry; Mai M Abd El-Aziz; Simon Wilkins; Michael E Cheetham; Susan E Wilkie; Alison J Hardcastle; Stephanie Halford; Ahmed Y Bayoumi; Linda A Ficker; Stephen Tuft; Shomi S Bhattacharya; Neil D Ebenezer
Journal:  Invest Ophthalmol Vis Sci       Date:  2002-02       Impact factor: 4.799

Review 10.  Corneal dystrophies in Japan.

Authors:  K Fujiki; K Nakayasu; A Kanai
Journal:  J Hum Genet       Date:  2001       Impact factor: 3.172

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  93 in total

1.  Clinical and pathological features of a non-crystalline form of Schnyder corneal dystrophy.

Authors:  Nicole Arnold-Wörner; David Goldblum; André R Miserez; Josef Flammer; Peter Meyer
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2012-03-14       Impact factor: 3.117

2.  Bilateral granular dystrophy: A clinicopathogenetic correlation after alcohol assisted debridement with phototherapeutic keratectomy.

Authors:  Alok Sati; Muralidhar Ramappa; Neeraja Sharma; Sunita Chaurasia; Geeta K Vemuganti; Chitra Kannabiran; Prashant Garg
Journal:  Med J Armed Forces India       Date:  2012-11-29

3.  TGFBI gene mutation analysis in a Chinese pedigree of Avellino corneal dystrophy.

Authors:  Ai-Rui Xie; Su-Ping Cai; Yin Yang; Yin-Chuan Fan; Wen-Han Yu; Li-Heng Guo; Qiao-Na Yang; Jin Zhu; Xu-Yang Liu
Journal:  Int J Ophthalmol       Date:  2011-06-18       Impact factor: 1.779

4.  Transforming growth factor β induced mutation-associated phenotype in a Chinese family exhibiting lattice corneal dystrophy.

Authors:  Chao Qu; Man Yu; Xiaoxin Guo; Jing Li; Xiaoqi Liu; Yi Shi; Bo Gong
Journal:  Biomed Rep       Date:  2017-08-30

Review 5.  Molecular bases of corneal endothelial dystrophies.

Authors:  Thore Schmedt; Mariana Mazzini Silva; Alireza Ziaei; Ula Jurkunas
Journal:  Exp Eye Res       Date:  2011-08-10       Impact factor: 3.467

6.  TGFBI, CHST6, and GSN gene analysis in Mexican patients with stromal corneal dystrophies.

Authors:  Johanna Gonzalez-Rodriguez; Arturo Ramirez-Miranda; Sergio E Hernandez-Da Mota; Juan C Zenteno
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2014-05-07       Impact factor: 3.117

7.  TGFBI gene mutation analysis in a Chinese pedigree of Reis-Bücklers corneal dystrophy.

Authors:  Ke Ma; Guo Liu; Yin Yang; Man Yu; Ruifang Sui; Wenhan Yu; Xiaoming Chen; Yinping Deng; Naihong Yan; Guiqun Cao; Xuyang Liu
Journal:  Mol Vis       Date:  2010-03-31       Impact factor: 2.367

8.  Denaturation and solvent effect on the conformation and fibril formation of TGFBIp.

Authors:  Heather L Grothe; Morgan R Little; Angela S Cho; Andrew J W Huang; Ching Yuan
Journal:  Mol Vis       Date:  2009-12-08       Impact factor: 2.367

9.  Exclusion of known corneal dystrophy genes in an autosomal dominant pedigree of a unique anterior membrane corneal dystrophy.

Authors:  Andrea L Vincent; David M Markie; Betina De Karolyi; Catherine E Wheeldon; Dipika V Patel; Christina N Grupcheva; Charles N J McGhee
Journal:  Mol Vis       Date:  2009-08-26       Impact factor: 2.367

Review 10.  Corneal dystrophies.

Authors:  Gordon K Klintworth
Journal:  Orphanet J Rare Dis       Date:  2009-02-23       Impact factor: 4.123

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