Ontology highlight
ABSTRACT:
SUBMITTER: Wieben ED
PROVIDER: S-EPMC6028112 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Wieben Eric D ED Aleff Ross A RA Tang Xiaojia X Kalari Krishna R KR Maguire Leo J LJ Patel Sanjay V SV Baratz Keith H KH Fautsch Michael P MP
PloS one 20180702 7
Fuchs Endothelial Corneal Dystrophy (FECD) is a late onset, autosomal dominant eye disease that can lead to loss of vision. Expansion of a CTG trinucleotide repeat in the third intron of the transcription factor 4 (TCF4) gene is highly associated with FECD. However, only about 75% of FECD patients in the northern European population possess an expansion of this repeat. The remaining FECD cases appear to be associated with variants in other genes. To better understand the pathophysiology of this ...[more]