角膜营养不良的IC3D分类——第2版

IC3D classification of corneal dystrophies--edition 2.

作者信息

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

机构信息

*Department of Ophthalmology, Pathology and Pharmacology, Louisiana State University Eye Center of Excellence, Louisiana State University Health Sciences Center, Louisiana State University, New Orleans, LA; †Department of Pediatric Ophthalmology, Viborg Hospital and Aarhus University Hospital, Aarhus, Denmark; ‡The Jules Stein Eye Institute, University of California at Los Angeles, Los Angeles, CA; §Department of Ophthalmology, Saarland University Medical Center, Homburg/Saar, Germany; ¶Department of Ophthalmology, Haukeland University Hospital, Bergen, Norway; ‖Department of Opthalmology, Helsinki University Central Hospital, Helsinki, Finland; **Jules-Gonin Eye Hospital, Lausanne, Switzerland; ††Cornea Service, Wills Eye Hospital, Philadelphia, PA; ‡‡University of Pittsburgh Medical Center Children's Eye Center, Pittsburgh, PA; §§Cornea Dystrophy Research Institute, Department of Ophthalmology, College of Medicine, Yonsei University, Seoul, Korea; ¶¶Department of Ophthalmology, University of Kansas Medical Center, Kansas City, KS; ‖‖Department of Ophthalmology, Villa Igea Hospital, Maître de Conférences des Universités Praticien Hospitalier, Forli, Italy; ***Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Institut de la Vision, Paris, France; †††Tufts University School of Medicine, Harvard Medical School, Schepens Eye Research Institute, New England Eye Center, Boston, MA; ‡‡‡Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan; and §§§Department of Ophthalmology, Johannes Gutenberg University Mainz, Mainz, Germany.

出版信息

Cornea. 2015 Feb;34(2):117-59. doi: 10.1097/ICO.0000000000000307.

DOI:10.1097/ICO.0000000000000307

PMID:25564336

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.

摘要

目的

更新2008年国际角膜营养不良分类（IC3D），纳入新的临床、组织病理学和遗传学信息。

方法

IC3D回顾了2008年至2014年间全球同行评议的关于角膜营养不良的新信息。利用这些信息，更新了角膜营养不良模板和解剖学分类。增加了新的临床、组织病理学和共焦显微镜照片。

结果

基于对角膜营养不良细胞起源的重新审视，提出了一种改良的解剖学分类，包括（1）上皮和上皮下营养不良，（2）上皮-基质TGFBI营养不良，（3）基质营养不良，以及（4）内皮营养不良。大多数营养不良模板已更新。“上皮复发性糜烂性营养不良”实际上包括一些潜在的不同上皮营养不良（弗朗切斯科蒂角膜营养不良、斯莫兰迪恩斯营养不良和赫尔辛兰迪恩斯营养不良），但必须与TGFBI诱导的营养不良等区分开来，后者也常与上皮复发性糜烂有关。蒂尔-贝恩克角膜营养不良的染色体位点仅位于5q31。先前在10q24染色体上被指定为蒂尔-贝恩克角膜营养不良变体的实体可能代表一种新型角膜营养不良。先天性遗传性内皮营养不良（CHED，原CHED2）很可能只是一种常染色体隐性疾病。所谓的常染色体显性遗传CHED（原CHED1）差异不够明显，不能再被视为一种独特的角膜营养不良。在回顾几乎所有已发表的病例时，描述似乎与一种与20号染色体相同位点相关的后极性多形性角膜营养不良（PPCD1）最为相似。共焦显微镜也已成为一种有用的工具，可揭示几种角膜营养不良的体内特征，这些特征以前需要组织病理学检查才能明确诊断。