Albinism – What is it, Symptoms and Treatments!

Albinism – What is it, Symptoms and Treatments of this rare disease , which affects 1 in 17,000 people. Also, Albinism is a condition caused by deficiency in melanin production. People with this problem are very white and, depending on the degree, even show changes in the color of their eyes and hair .

Skin , eye and hair colors are determined by the amount of melanin produced in our body. Melanin is a generic term used to designate a whole class of polymeric compounds whose main functions are to ensure pigmentation and skin protection against solar radiation. The more melanin a person has, the darker their skin will be and vice versa.

albinism

According to a study published by the US National Institutes of Health , one in 17,000 people worldwide has albinism . Albinism can affect men and women in the same proportion and can even occur in other species of living beings. There are several types of albinism , but type 1 albinism is conditioned by a recessive allele of a gene located on human chromosome 11, which encodes the enzyme tyrosinase, which acts in the transformation of tyrosine into melanin.

Causes of Albinism: Albinism iscaused by a genetic alteration related to the production of Melanin in the body . Melanin is produced by an amino acid known as Tyrosine and what happens in an albino is that this amino acid is inactive, so there is little or no production of Melanin, the pigment responsible for giving color to the skin , hair and eyes .

Albinism is a hereditary genetic condition, which can thus be passed from parents to children, requiring that a mutated gene be inherited from the father and another from the mother for the disease to manifest. However, an albino person can carry the Albinism gene and not manifest the disease , since this disease only appears when this gene is inherited from both parents.

Symptoms of Albinism: People with Albinism experience the following symptoms:

Albinism is associated with visual problems, which can include:

  • strabismus ( cross- eyed );
  • photophobia (sensitivity to light);
  • nystagmus (rapid, involuntary eye movements );
  • visual disturbance or blindness;
  • astigmatism.
albinism

Treatments for Albinism: Albinism isa genetic disorder, so treatment is quite limited. Proper eye care and monitoring of signs on the skin are useful to detect possible abnormalities that may eventually lead to health problems for the child.

The patient will likely have to wear special lenses prescribed by the ophthalmologist. You will also need to do some specific tests periodically, so that the doctor can monitor the development of the disease and the impact it has on vision. Surgical procedures to correct and reduce symptoms of nystagmus and strabismus are also options.

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In addition, the doctor must carry out an annual evaluation of the skin to detect, in time, signs of the appearance of lesions that can lead to skin cancer – one of the main complications of Albinism .

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