Genetic Cause of Rare Eye Disease Identified

A new study has provided insight into the molecular basis of a rare retinal degenerative disease called Enhanced S-Cone Syndrome, also known as Goldman-Favre Syndrome.

In Goldman-Favre Syndrome, the retina degenerates because light-receiving cells fail to regenerate.

Lead researcher Debarshi Mustafi, who is earning his medical degree and PhD in pharmacology at Case Western Reserve, and his team found that when the natural renewal process fails, metabolites are locked in, build up and turn toxic, killing cells over time in Enhanced S-Cone Syndrome.

"Although rare, Enhanced S-Cone Syndrome helps us understand critical visual processing errors that arise in disease," said Mustafi.

The discovery may provide a target to treat and prevent blindness caused by the Goldman-Favre Syndrome and shed light on common causes of blindness.

"Knowing that photoreceptor cells affect their own renewal will surely have an impact on other, more common, forms of retinal degeneration," said Mustafi.

Those with Goldman-Favre Syndrome become night blind and progressively develop blind spots and lose sight as they age, until reaching blindness.

To find the molecular mechanism that causes sight loss, the researchers examined mouse models of the disease and 9 patients with the syndrome.

The researchers found expression of genes responsible for the healthy renewal of rods and cones in the retina was reduced and that this problem originates in the photoreceptors themselves rather than in the adjacent retinal pigment epithelial layer as once thought.

The study is published in the Journal of the Federation of American Societies for Experimental Biology.

Source: ANI