Achromatopsia or monochromatism is a congenital and non-progressive disease that consists of a vision anomaly as a result of which only the colors white, black, gray and all their shades are perceived. It should not be confused with color blindness because in this case the problems occur around the identification of the colors red and green.
Achromatopsia is also characterized by reduced vision and a high level of sensitivity to light (photophobia).
Causes of achromatopsia
hereditary
Achromatopsia is hereditary and is caused by a mutation in the photoreceptor cells of the retina that are sensitive to color. These cells form the so-called cones and due to this cellular alteration, their behavior is not correct. People who suffer from achromatopsia do not have the ability to distinguish colors, their vision is greatly reduced and they are very sensitive to light.
Achromatopsia is transmitted by autosomal recessive inheritance. When information is available about a person suffering from this disease, it is advisable to identify the specific gene mutations for that case and also analyze family members who are at risk. Five genes (GNAT2 (1p13), PDE6C (10q24), PDE6H (12p13), CNGA3 (2q11.2), and CNGB3 8q21.3)) have been identified and associated with achromatopsia; mutations in CNGB3 are predominant, followed by those in CNGA3. The rest are rare causes.
It is also important to analyze couples in which both are at risk due to family inheritance so that they know that when they have a child, they will have a 25% chance of contracting this disease. Mostly, achromatopsia is a stationary disease; although it can lead to macular degeneration.
Symptoms of achromatopsia
Depending on the levels of the disease
There are several types of achromatopsia depending on the level of involvement. They range from the person who is not able to distinguish a color to those who have complete achromatopsia, which means that they are not able to distinguish any color except black and white.
The main symptoms are evident:
– Difficulty seeing in poorly lit places.
– Sensitivity to the sun.
-Reduced vision in all areas.
Diagnosis of achromatopsia
Ophthalmological and genetic examination
The diagnosis of achromatopsia basically consists of a complete examination by the ophthalmologist and various color vision tests. Additionally, the diagnosis is confirmed through a molecular genetic analysis of the genes involved.
Achromatopsia treatment and medication
Get a normal life
Achromatopsia has no definitive cure, so the treatment seeks to minimize the consequences and ensure that the patient can lead a normal life without any dependence on other people. To do this, it is necessary to use specific lenses for each case with the corrective filters that each patient requires.
Prevention of achromatopsia
Without prevention
As it is a hereditary disease, it cannot be prevented. Only relatives of patients with this disease should be informed of the risk they have of contracting it and, above all, couples in which both have a family history should be alerted of the percentage of risk that their children may suffer from achromatopsia.
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