Publications by authors named "Erling Dreisler"
Am J Ophthalmol
February 2024
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.
