Albinism

What is albinism?

Albinism is a genetic disorder, also called achromia. It is characterized by a deficiency in the production of melanin and a complete or partial absence of pigment in the skin, hair and eyes.

This hereditary disease occurs in humans of all races and in almost all mammals and reptiles.

Although it is a hereditary disease, it has no family history, that is, if you have albinism it is very likely that no one else 3-4 generations back in your family has developed this disease.

People with albinism, although they are healthy like all other people, in most cases have vision problems.

They are highly susceptible to sunburn and are more likely to develop skin cancer if they do not take regular measures to protect themselves from sunlight.

What are the causes of the disease?

The most common type of albinism in humans is oculocutaneous albinism, which affects both skin and hair color as well as eye color.

In this type of albinism, affected individuals have extremely light skin, white or pale pink, light blue or light green eyes, and light hair.

They are more sensitive to sunlight due to the lack of melanin, which normally protects the skin from the harmful effects of ultraviolet rays.

The genetic basis of albinism lies in the mutation of the genes responsible for melanin production. As you mentioned, there are several genes that can cause albinism in humans. Most often these are the genes TYR, OCA2, P, TYRP1 and others.

For a child to be born with albinism, both parents must be carriers of at least one defective gene associated with albinism.

This means that even when neither parent has albinism, if they carry the defective genes, there is a 25% chance that their child will be born with albinism.

Although albinism presents a problem visually, it can have other effects on affected individuals.

One of them is the increased risk of skin diseases, such as skin cancer, due to the lack of natural protection against UV rays.

Visual difficulties are also typical because albinism can affect the development of the eye and the optic nerve, which can lead to reduced visual acuity or impaired color perception.< /em>

The social aspects of the lives of people with albinism are also important to consider.

They often face prejudice, discrimination and difficulties in adapting to society because of their physical characteristics.

It is important that society be informed about the nature of albinism and commit to maintaining tolerance and equality for all regardless of their appearance.

What are the symptoms of albinism?

The signs of albinism are usually, but not always, visible on the skin of the face, hair and eyes.

Although albinism is characterized by white or very light blond hair and pink or white skin, skin pigmentation can vary from white to normal color, as in people without albinism. In some people with dominant albinism, the skin color never changes.

In other people, melanin production may begin and increase during childhood and teenage years, and this may result in partial restoration of pigmentation. When exposed to the sun, some people may experience:

• Freckles;
• Moles – with or without pigmentation, with moles without pigmentation being rose-red in colour;
• Large spot-like freckles;
• May also acquire a tan.

Hair color can also vary from very light blonde and completely white to normal brown or chestnut hair coloring. As the hair may also darken with the onset of puberty.

Eye color can vary and range from very light blue to brown and change over time.

What are the signs and symptoms of albinism related to visual function?

• Nystagmus – involuntary eye movements of the eyes to simultaneously focus on the same visual object
• High sensitivity to light – photophobia
• Astigmatism – a condition that causes blurred vision

Albinism treatment

Because albinism is a genetic disorder, treatment options are limited. But proper care to maintain eye health and regular examinations for skin abnormalities are especially helpful in albinism.

• It will most likely be necessary to wear glasses or contact lenses, and regular preventive examinations by an ophthalmologist are necessary.
• The attending physician should also regularly examines the skin of the person with albinism for the presence of skin cancer or lesions that can lead to carcinoma.

You can help yourself with albinism by: p>

• Apply a cream with a sun protection factor of at least 30 and which protects against UVA and UVB sun rays.
• Avoid exposure to strong sun, for example at high altitude height or in the summer.
• Wear protective clothing such as long-sleeved shirts, long pants and wide-brimmed hats.

Protections eyes by wearing dark glasses that block UV rays or tinted lenses with the same function.

Prevention of albinism

Prevention of albinism requires awareness and care. Avoiding prolonged exposure to the sun, especially during peak hours, is essential because the skin of people with albinism lacks the effective protective melanin.

Wearing protective clothing, hats and sunglasses also helps reduce the harmful effects of UV rays. Regular dermatological examination for early detection of skin changes is important.

Also, psychological support and education for the public about albinism is key to creating an inclusive environment and support for people affected by this disease.