Curing congenital blindness: doctors performed a unique, swift surgery for children who are visually impaired.

Doctors in London have successfully restored vision in children born with a rare genetic condition known as Leber congenital amaurosis (LCA). This severe retinal disorder, caused by mutations in the AIPL1 gene, typically results in irreversible blindness from birth. Following a procedure lasting just 60 minutes, four children gained the ability to perceive shapes, locate toys, recognize their parents' faces, and even read and write, as reported by The Guardian.

Leber congenital amaurosis is a group of inherited retinal diseases that lead to significant vision loss at birth. Mutations in various genes, including AIPL1, disrupt the function of photoreceptors, leading to vision deterioration.

Professor Michel Michaelides, a retinal consultant at Moorfields Eye Hospital and a professor at the University of California's Institute of Ophthalmology, described the results as "extremely impressive," showcasing the transformative potential of gene therapy in treating severe childhood blindness.

The first cohort included children aged one to two years from the USA, Turkey, and Tunisia. The procedures were conducted at a London hospital, and therapy was applied to only one eye of each patient to minimize potential safety concerns. The findings from the five-year follow-up were published in the journal The Lancet.

One notable case is that of Jace, a six-year-old from Connecticut, USA. Prior to the surgery performed when he was two years old, Jace was unable to track objects even when held close to his face. After the operation, his vision improved significantly; he can now identify toys from a distance and even "steals phones from teachers' back pockets," as his parents humorously note.

The gene therapy that cured these children involves delivering functional copies of the AIPL1 gene using a harmless virus to the retina—the light-sensitive tissue at the back of the eye. This gene is crucial for the proper functioning of photoreceptors—the cells that detect light and transmit visual information to the brain. Professor James Bainbridge, a consultant retinal surgeon at Moorfields and a professor studying the retina at UCL Institute of Ophthalmology, emphasized that children with LCA usually can only distinguish between light and dark, and their limited vision deteriorates further over time. The success of this therapy opens up new possibilities for early intervention and potential cures for this condition.

Important! This article is based on the latest scientific and medical research and is consistent with it. The text is for informational purposes only and does not contain medical advice. For a diagnosis, please consult a physician.