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 welldefined 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.
| Original language | Spanish |
|---|---|
| Journal | Cornea |
| Volume | 27 |
| Issue number | SUPPL. 2 |
| DOIs | |
| State | Published - Dec 2008 |
Fingerprint
Keywords
- Corneal dystrophy
- Corneal histopathology
- Epithelial basement membrane dystrophy
- Epithelial recurrent erosion dystrophy
- Eponym
- Gene
- Genetic corneal disease
- Inherited corneal disease
- Key reference
- Mutation
- Subepithelial mucinous corneal dystrophy
ASJC Scopus subject areas
- Ophthalmology
Cite this
La Clasificación IC3D de las distrofias corneales. / Weiss, Jayne S.; Møller, H. U.; Lisch, Walter; Kinoshita, Shigeru; Aldave, Anthony J.; Belin, Michael W.; Kivelä, Tero; Busin, Massimo; Munier, Francis L.; Seitz, Berthold; Sutphin, John; Bredrup, Cecilie; Mannis, Mark J; Rapuano, Christopher J.; Van Rij, Gabriel; Kim, Eung Kweon; Klintworth, Gordon K.
In: Cornea, Vol. 27, No. SUPPL. 2, 12.2008.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - La Clasificación IC3D de las distrofias corneales
AU - Weiss, Jayne S.
AU - Møller, H. U.
AU - Lisch, Walter
AU - Kinoshita, Shigeru
AU - Aldave, Anthony J.
AU - Belin, Michael W.
AU - Kivelä, Tero
AU - Busin, Massimo
AU - Munier, Francis L.
AU - Seitz, Berthold
AU - Sutphin, John
AU - Bredrup, Cecilie
AU - Mannis, Mark J
AU - Rapuano, Christopher J.
AU - Van Rij, Gabriel
AU - Kim, Eung Kweon
AU - Klintworth, Gordon K.
PY - 2008/12
Y1 - 2008/12
N2 - 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 welldefined 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.
AB - 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 welldefined 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.
KW - Corneal dystrophy
KW - Corneal histopathology
KW - Epithelial basement membrane dystrophy
KW - Epithelial recurrent erosion dystrophy
KW - Eponym
KW - Gene
KW - Genetic corneal disease
KW - Inherited corneal disease
KW - Key reference
KW - Mutation
KW - Subepithelial mucinous corneal dystrophy
UR - http://www.scopus.com/inward/record.url?scp=65349167054&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=65349167054&partnerID=8YFLogxK
U2 - 10.1097/ICO.0b013e31817780fb
DO - 10.1097/ICO.0b013e31817780fb
M3 - Article
VL - 27
JO - Cornea
JF - Cornea
SN - 0277-3740
IS - SUPPL. 2
ER -