Publications by authors named "W Lisch"
The International Committee on Classification of Corneal Dystrophies (IC3D) was founded in 2005 to address difficulties arising from the outdated nomenclature for corneal dystrophies (CD) and to correct misconceptions in the literature. For each of the 22 CDs, a separate template was created to represent the current clinical, pathological and genetic knowledge of the disease. In addition, each template contains representative clinical photographs as well as light and electron microscopic images and, if available, confocal microscopic and coherence tomographic images of the respective CD.
View Article and Find Full Text PDFPurpose: 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.
Article Synopsis
- The study investigates the genetic causes of Lisch epithelial corneal dystrophy (LECD) through a multicenter cohort involving 27 individuals from 17 families.
- Researchers found nine rare variants of the MCOLN1 gene in 23 patients, indicating that mutations in this gene lead to LECD and potentially other conditions like mucolipidosis IV (MLIV).
- The findings suggest that while MCOLN1 haploinsufficiency is the main contributor to LECD, there is variability in how strongly the condition manifests, highlighting a complex relationship between genetics and disease expression.