The IC3D classification of the corneal dystrophies.
The IC3D classification of the corneal dystrophies.
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DOI：
10.1097/ico.0b013e31817780fb
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发表时间：
2008-12
期刊：
影响因子：
2.8
通讯作者：
Klintworth GK
中科院分区：
文献类型：
--
作者：
Weiss JS;Møller HU;Lisch W;Kinoshita S;Aldave AJ;Belin MW;Kivelä T;Busin M;Munier FL;Seitz B;Sutphin J;Bredrup C;Mannis MJ;Rapuano CJ;Van Rij G;Kim EK;Klintworth GK
最近可用的遗传分析表明，目前的角膜营养不良分类的表型方法的缺点。不同基因的缺失可导致单一表型，而单个基因的不同缺陷可导致不同表型。一些称为角膜营养不良的疾病似乎没有遗传基础。本研究的目的是建立一个新的角膜营养不良分类系统，整合最新的信息表型描述，病理检查和遗传分析。国际角膜营养不良分类委员会（IC3D）的成立是为了制定一个当前和准确的命名法。这种解剖学分类继续根据主要受影响的水平来组织营养不良。每种营养不良都有一个模板，概括了遗传、临床和病理信息。从1到4的类别编号被分配，反映了支持给定营养不良存在的证据水平。最明确的营养不良属于第1类（明确的角膜营养不良，其中基因已被定位和鉴定，并且已知特定突变），最不明确的属于第4类（临床和遗传证据尚不令人信服的疑似营养不良）。随着关于营养不良的新信息变得可用，命名法可以随时间更新。角膜营养不良的IC3D分类是一种新的分类系统，将角膜营养不良传统定义的许多方面与新的遗传、临床和病理信息相结合。标准化模板提供了关键信息，包括角膜营养不良的证据水平。该系统方便用户使用，可在网站www.corneasociety.org/ic3d上检索。
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. 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. The International Committee for Classification of Corneal Dystrophies (IC3D) was created to devise a current and accurate nomenclature. 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. 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.