Gene therapy offers hope for sight loss

Gene therapy “could be used to treat blindness,” BBC News reports. This is just one of the many headlines reporting on the exciting application of gene therapy in visual impairment.

The news come from a small study involving just six male patients with a rare genetic condition called choroideremia. This condition causes progressive damage to the retina (the light-sensitive film of tissue at the back of the eye). There is currently no effective treatment for choroideremia and most people affected are legally blind by the time they are 50.

Choroideremia is associated with a defective version of the CHM gene. This study used a new technique to inject a healthy version of the CHM gene into parts of the retina that were still alive. Researchers hoped that this would halt the progression of the disease. They also wanted to assess whether this technique would cause any damage to the eye.

The injection proved to be safe in six men with the condition. It dramatically improved the visual accuracy for two men, although they were not “cured”, as the operation was not able to reverse the loss of retina that occurs with the condition. Ongoing research is looking at how long the effects will last.

The researchers are hopeful that this study may open the door to improving or halting other more common progressive disorders of the eye, such as age-related macular degeneration, the leading cause of visual impairment in the UK.

Links To The Headlines

Gene therapy ‘could be used to treat blindness’. BBC News, January 16 2014

Gene therapy heralds cure for blindness. The Daily Telegraph, January 16 2014

Pioneering first gene therapy trial opens the door for reversing some previously incurable forms of blindness. The Independent, January 16 2014

Gene therapy partially restores vision in rare blindness disorder. The Guardian, January 16 2014

Gene Therapy Breakthrough Could ‘Cure’ Blindness. Sky News, January 16 2014

Gene breakthrough restores the sight of people with inherited eye disease and could save thousands from blindness. Daily Mail, January 16 2014

Groundbreaking gene therapy restores vision to two men. ITV News, January 16 2014

Links To Science

MacLaren RE, Groppe M, Barnard AR, et al. Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial. The Lancet. Published online January 16 2014