Document Type
Article
Publication Date
2-12-2024
Publication Title
Cornea
Abstract
PURPOSE: The International Committee for the Classification of Corneal Dystrophies (IC3D) was created in 2005 to develop a new classification system integrating current information on phenotype, histopathology, and genetic analysis. This update is the third edition of the IC3D nomenclature. METHODS: Peer-reviewed publications from 2014 to 2023 were evaluated. The new information was used to update the anatomic classification and each of the 22 standardized templates including the level of evidence for being a corneal dystrophy [from category 1 (most evidence) to category 4 (least evidence)]. RESULTS: Epithelial recurrent erosion dystrophies now include epithelial recurrent erosion dystrophy, category 1 ( COL17A1 mutations, chromosome 10). Signs and symptoms are similar to Franceschetti corneal dystrophy, dystrophia Smolandiensis, and dystrophia Helsinglandica, category 4. Lisch epithelial corneal dystrophy, previously reported as X-linked, has been discovered to be autosomal dominant ( MCOLN1 mutations, chromosome 19). Classic lattice corneal dystrophy (LCD) results from TGFBI R124C mutation. The LCD variant group has over 80 dystrophies with non-R124C TGFBI mutations, amyloid deposition, and often similar phenotypes to classic LCD. We propose a new nomenclature for specific LCD pathogenic variants by appending the mutation using 1-letter amino acid abbreviations to LCD. Pre-Descemet corneal dystrophies include category 1, autosomal dominant, punctiform and polychromatic pre-Descemet corneal dystrophy (PPPCD) ( PRDX3 mutations, chromosome 10). Typically asymptomatic, it can be distinguished phenotypically from pre-Descemet corneal dystrophy, category 4. We include a corneal dystrophy management table. CONCLUSIONS: The IC3D third edition provides a current summary of corneal dystrophy information. The article is available online at https://corneasociety.org/publications/ic3d .
First Page
466
Last Page
527
PubMed ID
38359414
Volume
43
Issue
4
Creative Commons License
This work is licensed under a Creative Commons Attribution-NonCommercial-No Derivative Works 4.0 International License.
Recommended Citation
Weiss, Jayne S.; Rapuano, Christopher J.; Seitz, Berthold; Busin, Massimo; Kivelä, Tero T.; Bouheraoua, Nacim; Bredrup, Cecilie; Nischal, Ken K.; Chawla, Harshvardhan; Borderie, Vincent; Kenyon, Kenneth R.; Kim, Eung Kweon; Møller, Hans Ulrik; Munier, Francis L.; Berger, Tim; and Lisch, Walter, "IC3D Classification of Corneal Dystrophies-Edition 3" (2024). School of Medicine Faculty Publications. 2467.
https://digitalscholar.lsuhsc.edu/som_facpubs/2467
10.1097/ICO.0000000000003420
Included in
Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons, Eye Diseases Commons, Sense Organs Commons