Revealed the impact of patients’ gene therapy on the brain of patients with a type of retinal hereditary dystrophy, associated with severe loss of bilateral vision.
The investigation is integrated into the Ern-Eye consortium, a European reference network dedicated to rare eye diseases (with 24 European Union countries) that is trying to ensure better knowledge and monitoring of more than 900 currently identified rare eye diseases. These diseases are the main cause of visual impairment and blindness in children and young adults in Europe.
In this context, an investigation was carried out by a multidisciplinary team of the University of Coimbra (UC) and the Local Health Unit of Coimbra (ULS Coimbra). Shows the Real impact of gene therapy at the brain level of patients with a type of Retina Hereditary Dystrophyassociated with severe loss of bilateral vision.
The researchers studied the brain response visual stimuli by people who have received innovative – genic therapy – for hereditary retinal dystrophy associated with gene RPE65, that plays a vital role in vision.
Genic therapy is a treatment that aims to replace a gene that is not working properly. In this case (voretigene non -parvist), is administered under the retina of the sick, after a intraocular surgery (vitrectomia).
The beneficial effects of this treatment at the level of the visual function of the treated patients were already widely documented. But now its effectiveness has been proven, besides being identified Changes in the areas of the cerebral cortex associated with vision after treatment.
Patients affected by retinal dystrophy associated with the RPE65 gene are very Limited in the central view, they have night blindness and lateral vision loss.
All patients were evaluated before and one year after treatment, with imaging exams of the retinal and visual function tests, using stimuli with different levels of brightness and contrast, and also through functional magnetic resonance imaging.
And were verified specific improvements in light sensitivity in low luminosity environments.
Surprisingly, the improvement that scientists were able to detect “It is not only dependent on retinal cells that were intervened with gene therapy, but also on the brain’s ability to react to intervention”, Explains researcher Miguel Castelo-Branco, in a statement sent to Zap.
That is, “ regions of the right hemisphere of the brainwhich dominate in the visual function, were those that showed Better response to intervention”Adds the author of the study.
In addition to showing the positive results of the gene therapy for the treatment of this disease associated with the RPE65 gene, the results also suggest that “rehabilitation approaches, including visual function training, are important for direct the brain To better respond to the gene therapy, ”says the neuroscientist.
“There is increasing evidence of the need to «Re -educate» brain circuits Even in cases where therapy is directed to sense organs, as happens in hearing, with cochlear implants and the subsequent process of hearing reeducation, which implies professionals such as speech therapists, ”concludes Miguel Castelo-Branco.
