Groundbreaking study into genetic eye disease

Advanced optical genome mapping (OGM) has been used to identify how vision-loss disease Fuchs Endothelial Corneal Dystrophy (FECD) progresses and potential therapeutic developments. 

A study, published in eBioMedicine journal and led by the UCL Institute of Ophthalmology, revealed that understanding the mechanisms behind FECD is key to developing new treatments for FECD and other diseases related to genetic mutations.  

Findings of those with FECD highlighted the significance of the extreme genetic instability on a molecular level that enables a high frequency of mutations, which was heavily impacted by both patient age and size.