Gene therapy can restore vision in bothnia dystrophy, a Swedish study shows. Almost all participants in the study had improved vision with the treatment.
Bothnian dystrophy is a retinal disease that destroys the photoreceptors in the retina, leading to gradual loss of vision. It is caused by an inherited genetic mutation that damages a specific protein in the eye. The disease is most common in northern Sweden, but is also found in some parts of France and on the island of Newfoundland in Canada. There is currently no cure for the disease.
In a joint project, Marie Burstedt, Associate Professor and Chief Physician at Norrland University Hospital in Umeå, and Professor and Chief Physician Anders Kvanta from St. Erik’s Eye Hospital in Stockholm have been researching the disease. They used a so-called viral vector, which is a specially designed virus that has been genetically modified to contain a functional version of the damaged gene.
Eleven of the twelve participants in the study improved their vision, and the study has now also been awarded the Swedish Association of the Visually Impaired’s (Synskadades Riksförbund) Eye Care Award.
“Puts Swedish eye research on the map”
– This research has the potential to help a large number of people with vision-impairing retinal disease. It is a world-unique gene therapy study that really puts Swedish eye research on the map, says Niklas Mattsson, chairman of the Swedish Association of the Visually Impaired, in a press release.
According to Dr. Burstedt, the goal of the research was to inform about the unique expression of the disease and gain a better understanding of patients’ visual impairment. However, she believes their study could be translated to other eye diseases caused by genetic mutation, where one could vary which gene needs to be modified.
– Receiving the Eye Care Award truly adds a golden touch to my research. The goal has been to help those affected in the best possible way, and it has been an incredible research journey, she says.