Doctors in London have managed to restore vision to children suffering from Leber congenital amaurosis, a rare genetic disease that causes blindness. This was made possible thanks to an innovative gene therapy.
The procedure is carried out through an injection into the retina of the eye.
After the operation, the cells begin to produce the necessary proteins, which gradually restores visual function.
Five years after the operation, the improvements persist and the children who lived in total darkness can now see their parents’ faces, find toys and even read.
Four children aged between one and two from the US, Turkey and Tunisia were selected by specialists from Moorfields and UCL in 2020. The operations were carried out at London’s Great Ormond Street hospital.
Healthy copies of the AIPL1 gene, contained in a harmless virus, were injected into the retina, the light-sensitive layer of tissue at the back of the eye.
The gene is vital for the function of photoreceptors, light-sensing cells in the retina that convert light into electrical signals that the brain interprets as vision.
The therapy was only administered into one eye per patient to overcome any potential safety issues.
The study was published in the Lancet Journal under the title “Gene therapy in children with AIPL1-associated severe retinal dystrophy: an open-label, first-in-human interventional study“.
