Problems related to visual health are often very unknown to the general population in Spain, beyond myopia or presbyopia. On this occasion, we detail what achromatopsia is, a disease that is inherited and that has to do with genetic mutation.
Regarding its manifestations, this pathology, achromatopsia or monochromatism, affects the retina and results in certain problems in withstanding daylight (patients are extremely sensitive to this circumstance), as well as a reduction in normal visual acuity and the ability to discern colors (only white, black, and gray range). ).
Why does achromatopsia occur?
Although each patient is different, and will have different needs in light filtering, this pathology is caused by mutations in the CNGB3 and CNGA3 genes, responsible for almost 80 percent of cases of achromatopsia.
We say that this visual problem is hereditary since in autosomal receptive diseases like this, both parents carry a copy of the mutated gene and a normal one. Although it is asymptomatic, parents can be carriers but not have detectable symptoms of the disease with the naked eye.
Thus, children will have a 25 percent chance of suffering from it, due to inheritance. There is a diagnostic test that can provide the necessary information before feeling the symptoms, which is called genetic evaluation. With it, the risk of passing this disorder from a patient to their offspring can be evaluated, as well as establish an accurate diagnosis.
These are the symptoms of achromatopsia
So that we can get an idea of the way those affected by this visual mutation see, people with achromatopsia They don’t distinguish colors. But not only that: those who have this condition can also see blurred, have an extraordinary (and annoying) sensitivity to light (photophobia), and low visual acuity.
When the genes that are mutated in people with achromatopsia are transformed, patients suffer abnormal sensitivity to light cones, since its way of informing the brain about colors. This ‘color blindness’ can be total, or incomplete, that is, it still maintains a certain possibility of color.
Is there a treatment for this visual color pathology?
Although today there is no definitive treatment for achromatopsia (there are studies that point to a near future in which it can be corrected by surgical intervention), those affected may benefit from some lens fitting and assistance services. In these cases, action is taken on the symptoms and experts recommend periodic visual check-ups.
There is the possibility of using glasses or contact lenses with filter to minimize photophobia and improve contrast sensitivity. The specific lenses for each case will have the filters that best suit each patient.
While the definitive solution arrives from science, there are expert tips that can help compensate for the difficulty of receiving colors, such as correct lighting in the home, supported by professionals; and seek close support to help distinguish colors on a daily basis. As for prevention, since it is a hereditary problem, the only solution is information to warn subsequent family generations of the possibility of suffering from this genetic alteration.
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