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Genetic clues to inherited eye condition uncovered

Scientists have discovered four genetic loci that can predict the risk of developing Fuchs dystrophy with an accuracy of 78%


Researchers have isolated three new genetic loci that are linked to Fuchs endothelial corneal dystrophy (FECD).

The genetic clues, in combination with a previously discovered locus, can predict an individual’s chance of developing the inherited eye condition with an accuracy of 78%.

The research, published in Nature Communications, took more than a decade to complete and is the largest study to reveal genetic markers of FECD. It involved 2075 FECD patients and 3342 controls.

Study author and University of California Professor of Ophthalmology, Dr Natalie Afshari, told OT that the findings provided a deeper understanding of the pathology of FECD.

“Over time, we will have significant advances in the development of molecular diagnostics for these patients,” she explained.

Dr Afshari highlighted that FECD was the most common cause of corneal transplantation.

She outlined that the condition often clustered in families and was roughly 39% heritable.

The findings revealed a gender specific FECD genetic association. A variant at the genetic locus, LAMC1 led to a significantly higher risk of FECD in women, while the TCF4 variant led to greater risk in men.

Further research would focus on investigating the molecular mechanism at each locus that led to the development of the disease, Dr Afshari concluded.