Gene behind profound vision loss discovered

A new gene tied to an incurable eye disorder called retinitis pigmentosa has been discovered.
Scientists at The University of Texas Health Science Centre at Houston (UTHealth) carried an exhaustive hereditary analysis of a large Louisiana family with vision issues to uncover the gene.
The retina converts images into electrical signals that can be processed by the brain. It acts much like the film in a camera.
Retinitis pigmentosa damages this film (the retina) and its early symptoms include decreased night vision and peripheral vision, researchers said.
Once it starts, the loss of vision is relentlessly progressive, often ending in blindness, they said.

In the journal Investigative Ophthalmology and Visual Science, UTHealth's Stephen P Daiger and his colleagues report their discovery of a new gene tied to retinitis pigmentosa, which brings the total of genes associated with this sight-threatening disease to more than 60. The gene is called hexokinase 1 (HK1).

This information is important because it helps affected families cope with the disorder, helps explain the biological basis of these diseases and suggests targets for drug treatments and gene therapy, said Daiger.
"The challenge now is to block the activity of these mutations and clinical trials are underway to do just that," he said.

For approximately three decades, Daiger, has been following the progress of hundreds of families across the US with retinitis pigmentosa.
"We've found the cause of disease in 80 per cent of the families we have studied. Our goal is to find the cause in the remaining 20 per cent," Daiger said.
Equipped with the genetic profiles of family members, Daiger's team has identified differences in the genetic makeup of those with the disease.
The researchers also use family histories and DNA tests to glean information about the condition's hereditary nature.