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Genetic testing for age-related macular degeneration (AMD)

Age-related macular degeneration (AMD) is a multifactorial disease, i.e. a disease caused by multiple causes (or factors). The main risk factor is represented by ageing, but genetic, environmental and behavioral factors are also important.

The genetic risk factor is related to the presence of certain mutations in the CFH, AMRS2 and HtrA1 genes. Despite playing an important role in the onset of age-related macular degeneration, the genetic factor alone does not cause the pathology. In fact, other factors intervene in the etiology of AMD, such as age, smoke, exposure to UVs without eye protection, unbalanced diet, hypercholesterolemia, high blood pressure, lack of physical activity, etc. For this reason, in the presence of genetic mutations that are considered at risk, we speak of genetic susceptibility.

Together with ageing, genetic susceptibility is the only risk factor that cannot be modified. However, knowing the existence of genetic susceptibility can be extremely useful to assess the overall risk of onset of the disease and adopt proactive strategies to lower such risk.

Genetic testing for AMD allows to identify or rule out the presence of any known genetic risk associated with this disease. Rome Vision Clinic offers its patients the possibility to get tested with a very simple procedure, which consists in sampling saliva by rubbing a cotton swab against the inner surface of the mouth. This procedure takes less than a minute and is totally painless. The sample is then sent to a specialized genetic testing laboratory and analyzed. Genetic testing for AMD is recommended for people who are familiar with this disease but also for those who are already affected.

In the presence of genetic susceptibility, people who are not affected can adopt prevention strategies that aim to modify certain behavioral factors that may increase their risk of getting AMD, such as smoking, exposing to sunlight without protective lenses, following unbalanced diets, not exercising regularly, not checking or not regulating blood cholesterol levels and / or systemic pressure. Patients with genetic susceptibility are given customized prevention protocols aimed at lowering the overall risk of onset of the pathology as much as possible. Test results and prevention protocols must be supervised by an experienced geneticist specialized in this field.

The prevention strategy also includes the habit of undergoing regular eye examinations, necessary to monitor the state of health of the retina, promptly diagnose any possible clinical signs of AMD and carefully monitor the evolution of the pathology.

Last but not least, genetic testing is also valuable for patients who are already affected by AMD, because some therapies are more effective in the presence of certain genetic mutations rather than others and the genetic characterization disclosed by the DNA test allows the doctor to address each patient to the best possible treatment for her or him.

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