- Until now, no way of dealing with this problem was known.
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| A human eye. / UNSPLASH |
A genetic treatment manages for the first time to partially cure color blindness
Color blindness is a relatively common genetic disorder in which those who suffer from it lack certain types of cells (or these do not function properly) in the retina, the cones, which allow us to differentiate colors properly. Therefore, colorblind people perceive a limited range of color, reaching in extreme cases to see 'in black and white.
Until now there is no known way to treat color blindness, which makes it a condition that people have to live with all their lives. That, however, could change soon: a team of researchers from University College London has managed to partially restore color vision in two children with specific color blindness.
Return the color
As detailed in an article published in the specialized media Brain, for such a feat they have used a novel gene therapy, which has successfully activated some previously dormant communication routes between the retina and the brain, taking advantage of its own plasticity. of the adolescent brain.
To understand how this is possible, it is necessary to take into account some peculiarities of achromatopsia, the most extreme variation of color blindness in which it is not possible to distinguish any color. In this form of the disease (which, it should be noted, is also the least frequent), the cones do not directly send signals to the brain, although they may be present. For this reason, scientists have spent years searching for a way to 'wake up these cells.
On this occasion, the authors recruited four patients between the ages of 10 and 15 with achromatopsia, with whom they carried out two different clinical trials: in each case, a gene therapy directed at a specific and different gene was tested. The primary goal of the trial, however, was to determine the safety of the treatment, rather than its effectiveness.
A future for genetic vision problems
Using a novel form of magnetic resonance imaging, these scientists observed the appearance of new signals between the retina and the brain in two of the children, whose results in this regard were close to those of people with normal vision.
In addition, this success seems to be corroborated with other psychophysical tests to evaluate the changes in a vision experienced by these children, and more specifically in the ability to distinguish different levels of contrast.
For the authors, this is an indication that gene therapy can be successful in treating vision conditions of genetic origin, especially if the neuroplasticity of people in the developmental stages (mainly childhood and adolescence) is taken advantage of.
References
Mahtab Farahbakhsh, Elaine J Anderson, Roni O Maimon-Mor, Andy Rider, John A Greenwood, Nashila Hirji, Serena Zaman, Pete R Jones, D Samuel Schwarzkopf, Geraint Rees, Michel Michaelides, Tessa M Dekker, A demonstration of cone function plasticity after gene therapy in achromatopsia, Brain, 2022;, awac226, https://doi.org/10.1093/brain/awac226
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