What is albinism? What are the symptoms?

By | 31 May 2021

Albinism; is a genetic disease in which there is little or no color pigment in the skin, eyes, and hair.

What is an albino? (Albinism)

Albinism is a disorder that occurs as a result of various conditions that cause problems in the production of melanin in the body. The name of the disease albinism is derived from the Latin word ‘abuse meaning white. In our language, the definitions of albinism or albinos are used for the disease. People with albinism are called albinos.

The lack of color in patients’ hair, eyes, and skin with albinism are one of the most striking findings. However, the lack of color may not always be very obvious. Albinos are very sensitive to sunlight. Therefore, the risk of developing skin cancer is high.

Melanin is a pigment that gives color to the skin, hair, and eyes. Melanin is also involved in the development of the optic nerve, which is essential for visual function. Therefore, vision problems are common in albinism patients.

More than one gene is involved in the production of melanin. Melanin is mainly synthesized by melanocyte cells found in the skin, eyes, and hair. Albinism is caused by a mutation in any of the genes responsible for melanin production. It can be divided into different types according to which gene is affected. In some species, no melanin pigment is produced, while there is little melanin production in others.

Types of albinism:

Oculocutaneous albinism (OCA)
It is the most common type of albinism. It occurs as a result of a mutation in one of the 7 genes going from OCA1 to OCA7. For the patient to have oculocutaneous albinism, the person must have both copies of the mutated gene (one from the mother and one from the father).

Mutation in OCA genes leads to decreased melanin production. Mutations in different OCA genes cause different amounts of melanin to be synthesized in patients. Therefore, the findings seen in patients may vary according to OCA types.

Mutations in the OCA genes also cause vision problems.

OCULAR ALBINISM
The effects of ocular albinism are limited to the eyes and this disease causes vision problems. The most common type is Type 1. The mutant gene that causes type 1 ocular albinism is carried on the X chromosome. Therefore, this disease is seen in males who have inherited a mutant copy of the gene from their mother. Ocular albinism is much rarer than OCA.

GENETIC SYNDROMES CAUSED BY ALBANS
Hermansky-Pudlak syndrome; is a genetic condition that causes bleeding problems, lung, and intestinal conditions, as well as OCA. Chediak-Higashi syndrome also causes frequent immune system problems and neurological abnormalities in addition to OCA.

(Albinism) What are the Symptoms of Albino?

Symptoms of albinism occur in the skin, hair, and eyes.

Albinos usually have lighter skin tones than their siblings or parents. The skin and hair color of albinos can range from white to brown. In mild forms of albinism, the patient’s skin and hair color may be quite similar to their non-albino siblings and parents.

Skin exposure in albinos

  • Freckle
  • Pigmented or non-pigmented moles (non-pigmented moles are usually in shades close to skin tone, such as pink)
  • sunspots, lentigos
  • Conditions such as sunburn may occur.

In some albinos, skin pigmentation does not change at all over the years. However, some may have a slight increase in melanin production during childhood and adolescence. As a result, skin pigmentation may increase slightly. Hair color can also be in many different shades, from white to brown. As age progresses, the darkening can be seen in the hair color due to environmental factors.

Eyebrows and eyelashes are usually light-colored. Eye color also ranges from light blue to brown. Just like skin and hair color, eye color can change over the years. The lack of pigmentation in the iris layer, which gives the eye its color, can cause the iris to be transparent. In this case, the iris cannot completely prevent excess light from entering the eye. Light-colored eyes may appear red under lighting such as flashes.

Vision problems that may occur due to albinism are as follows:

  • The involuntary rapid back and forth movement of the eyes (nystagmus)
  • Tilting or shaking the head to prevent involuntary eye movements and obtain better vision
  • Strabismus
  • Severe near and far vision problems, high degree of myopia or hyperopia
  • Hypersensitivity to light (photophobia)
  • Astigmatism, which causes blurred vision
  • poor depth perception
  • The problem in retinal development and related decreased vision
  • partial or complete loss of vision

How Is Albinism Treated?

Albinism is an incurable disease. The treatment of albinism includes performing eye checks of the patient and scanning the skin for precancerous lesions.

In the treatment and follow-up of albinism, dermatology, ophthalmology (eye diseases) and genetics departments should work together.

Albinos should go for regular eye check-ups and use the glasses or lenses provided to them. In patients with nystagmus and strabismus problems, these conditions can be corrected by using surgical methods.

Albinism patients should also go to dermatology control regularly. During these controls, the patient’s skin is examined and the presence of lesions that may cause skin cancer are evaluated.

Albinism patients should be taught some personal care habits from childhood. These applications are as follows:

  • Using Sunscreen: Albinos should use sunscreen that provides protection against both Ultraviolet A (UVA) and Ultraviolet B (UVB) rays. It should be noted that the protection value of the product to be preferred is SPF 30 and above.
  • Reducing Sun Exposure: Behaviors such as staying outside for a long time in sunny weather and going out in the middle of the day should be avoided.
  • Wearing Protective Clothing: Wearing long-sleeved T-shirts when going out, choosing trousers instead of shorts, wearing cowboy hat-style hats that provide wide shade; Provides sun protection.
  • Protecting the Eyes: Sunglasses or special lenses that darken bright light help protect the eyes from the sun.

With some arrangements to be made in the social lives of children with albinism, the participation of these children in life can be increased. Parents with albino children can contact the child’s teacher and exchange information on practices that facilitate learning in the classroom and at home. Applications that can be made in the classroom and work environment of albino children:

your child

  • Sitting in the front row of the class
  • Using large fonts
  • Using high-contrast materials such as black text on a white background, not choosing colored text or colored paper
  • Enlarging the computer screen font
  • Avoiding bright lights when doing homework or studying
  • Reading is the way it is allowed to use extra time during writing activities.

When the treatment of albinism patients is disrupted and the necessary support is not given to these patients, these people may face difficulties in many areas of life. Children whose vision problems are not resolved may be successful in the academic field in the future, may have difficulty in finding a job, and may not be able to obtain a driver’s license.

Since albinos are sensitive to the sun, they need to take sunscreen precautions. Many complications, from sunburn to skin cancer, may develop in patients who do not take these precautions.

On the other hand, albinism patients may be discriminated against in their social lives. They can be judged for their looks. This can lead to a lack of self-confidence in albinism patients. To prevent all these, albino children should be supported by their family and friends. It is also beneficial for albino individuals who have problems in their social life to get professional help in this regard.

Albinism is a disease that cannot be completely cured. However, it can improve the quality of life by regularly going to the eye and skin controls of the patient and applying the recommendations of the doctors.

 

 

The page content is for informational purposes only. Items containing information about therapeutic health services are not included in the content of the page. Consult your physician for diagnosis and treatment.