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General Practice 2023

Achromatopsia: what é, symptoms, causes and treatment

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Achromatopsia: what é, symptoms, causes and treatment
Achromatopsia: what é, symptoms, causes and treatment
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Color blindness, scientifically known as achromatopsia, is a retinal disorder that can occur in both men and women and causes symptoms such as decreased vision, excessive sensitivity to light and difficulty seeing colors.

Unlike color blindness, in which the person cannot distinguish certain colors, achromatopsia can completely prevent the person from seeing colors other than black, white and some shades of gray, due to a dysfunction present in the cells that process the light and color vision, called cones.

Usually, color blindness arises from birth, since its main cause is a genetic alteration, however, in some rarer cases, achromatopsia can also be acquired during adulthood due to injuries in the brain, such as tumors, for example.

Although there is no cure for achromatopsia, the ophthalmologist may recommend treatment with the use of special glasses that help improve vision and alleviate symptoms.

Vision of a person with complete achromatopsia

View of a person with complete achromatopsia

Main symptoms

In most cases, symptoms may begin to appear in the first weeks of life, becoming more evident as the child grows. Some of these symptoms include:

  • Difficulty opening eyes during the day or in bright light;
  • Trembling and flickering of the eyes;
  • Difficulty seeing;
  • Difficulty learning or distinguishing colors;
  • Black and white view.

In more severe cases, rapid side-to-side eye movement may also occur.

In some cases, diagnosis can be difficult as the person may not be aware of their situation and not seek medical help. In children it may be easier to notice achromatopsia when they have difficulty learning colors at school.

What can cause achromatopsia

The main cause of color blindness is a genetic alteration that prevents the development of cells in the eye that allow us to observe colors, known as cones. When the cones are completely affected, achromatopsia is complete and, in these cases, only black and white is seen, however, when the change in the cones is less severe, vision may be affected but still allow to distinguish some colors, being called partial achromatopsia.

Because it is caused by a genetic alteration, the disease can pass from parents to children, but only if there are cases of achromatopsia in the family of the father or mother, even if they do not have the disease.

In addition to genetic alterations, there are also cases of color blindness that appeared during adulthood due to brain injuries, such as tumors or taking a drug called hydroxychloroquine, which is generally used in rheumatic diseases.

How the diagnosis is made

The diagnosis is usually made by an ophthalmologist or pediatrician, only through observation of symptoms and color tests. However, it may be necessary to do a vision test, called electroretinography, which allows you to evaluate the electrical activity of the retina, being able to reveal if the cones are working correctly.

How the treatment is done

Currently, this disease has no treatment, so the objective is based on relieving the symptoms, which can be done with the use of special glasses with dark lenses that help to improve vision while decreasing the light, improving sensitivity.

In addition, it is recommended to wear a hat on the street to reduce the light on the eyes and avoid activities that require a lot of visual acuity, as they can quickly tire and cause feelings of frustration.

To allow the child to have a normal intellectual development, it is advisable to inform the teachers about the problem, so that they can always seat the child in the front row and offer material with large letters and numbers, for example.

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