Exploring Molecular Mechanisms Underlying Fuchs Endothelial Corneal Dystrophy And Their Relevance To Therapeutic Interventions

SummaryFuchs endothelial corneal dystrophy (FECD) is an age-related degenerative condition characterised by bilateral progressive loss of corneal endothelial cell (CEC) function leading to severely impaired vision. An unstable intronic tri-nucleotide CTG repeat expansion within the transcription factor-encoding gene, TCF4, has recently been discovered to account for more than 70% of cases. An overview of our current understanding of the genetics of FECD, as well as the underlying molecular mechanisms responsible for the disease pathology will be provided. Furthermore, future potential avenues for targeted therapeutic interventions will be discussed in context of what has already been learnt from the broader field of non-coding repeat expansion disease, well-established causes of both neuromuscular and neurodegenerative disorders.