Researchers at the University of California, Los Angeles have identified repeat expansions in the TCF4 gene, specifically the CTG18.1 DNA sequence, as a possible driver of hereditary endothelial corneal Fuchs dystrophy, a common cause of age-related vision loss, according to UCLA researchers. The findings were published in a peer-reviewed medical journal.
FECD is a serious inherited progressive condition marked by a fall in corneal endothelial cell density, swelling of the cornea, and a gradual loss of vision. In higher income countries, FECD is a frequent reason for corneal transplantation and a significant source of vision impairment among older adults.
To identify the genes involved, researchers collected corneal endothelial cells from affected individuals. They employed high-precision optical mapping of the genome that locates a gene’s position relative to neighboring DNA segments at single-molecule resolution. This approach revealed genomic imbalances associated with FECD.
The findings indicate that a dynamic and unstable CTG18.1 repeat expansion in the TCF4 gene raises the risk of developing FECD across age groups and across sexes.
The team plans further work to determine the best timing for therapies and preventive actions that could slow or halt the progression of hereditary FECD.
Earlier clinical discussions have addressed questions about how often ocular hemorrhages occur in older adults.