Albino disease, a genetic disease characterized by insufficient production of melanin pigment, occurs as a result of genes inherited from parents. Although it is not life-threatening for the person, long-term exposure to sunlight can lead to various diseases.
In addition, in some countries, people with albinism are subjected to discrimination, violence and even death. The United Nations designated June 13 as International Albinism Awareness Day in order to combat discrimination on this issue. Without further ado, let’s move on to our content where we answer questions such as what is albino disease and why does it occur?
What is albino?
Albino is an inherited genetic disease that reduces the amount of melanin pigment in the skin, hair or eyes. Albino can be seen in all racial and ethnic groups living in the world. According to recent research, the disease is seen in one in every 3,000 people worldwide. People with albino disease need to protect their skin and eyes from the sun and have regular eye checks.
So what causes albinism?
Albino is caused by a genetic mutation usually passed from parent to child. This mutation affects the production of melanin, one of the pigments that protect the skin from UV rays. At the same time, melanin is also very important for the development of the eye. Problems in the amount of melanin affect the development of the retina and optic nerve in the eye.
What are the symptoms of albino disease?
- Skin
- Hair
- Eye color
Children with albino disease, which affects the skin, hair and eyes, are born with pinkish-white skin and white hair. Their eyes are usually light grey, blue or hazel, but they can also appear pink under light. Let’s take a closer look at the symptoms.
Skin
The clearest sign of albino is a skin tone that is lighter than the normal skin tone. In some people, melanin levels gradually increase and skin tone darkens as a person ages. The skin of these people can easily burn due to the sun and there is usually no tanning. Freckles, pink moles and large freckle-like spots occur in albino patients exposed to the sun.
Hair
Hair color in people with albinism may vary from white to brown. Those of African or Asian descent tend to have blonde, brown or reddish hair. A person’s hair color, like their skin, may darken as they age.
Eye color
Eye color is also one of the symptoms that can change with age and can range from very light blue to brown. Low levels of melanin in the iris cause the eyes to appear slightly translucent and, in certain light, red or pink as the light reflects off the retina at the back of the eye. The lack of pigment prevents the iris from blocking the sun’s rays, so the person becomes highly sensitive to light.
How is albino diagnosed?
The diagnosis is usually made soon after birth, as the newborn’s skin and hair color will be much lighter or paler than the rest of the family. The presence of light spots on the skin is among the important signs of the presence of albinism. Full diagnosis. It is also done by comparing the child’s melanin levels, which cause color differences, with those of the parents and other members of the family.
Since a number of vision-related problems can often be associated with albinism, the doctor must perform a detailed eye examination. Electrodiagnostic tests may also be performed, in which small electrodes are placed on the scalp to test the connection of the brain and eyes.
Is albino disease hereditary?
Albino is an inherited genetic disorder. Generally, both parents must carry the albino gene for a child with albinism to be born. The albino gene is a recessive gene, meaning that a child must receive a copy from both parents to have the genetic disorder. Even if the child inherits one copy of the gene from only one parent, he or she will not show signs of albinism. If both parents carry the gene, there is a one in four chance with each pregnancy that the child will be born with albinism.
What are the different types of albinos and their characteristics?
Oculocutaneous and ocular albinism are two different types. In oculocutaneous albinism, the condition is immediately noticeable due to the dilution of the pigment level and its effect on hair, skin and eye color. In ocular albinism, hair and skin may be close to normal in appearance, but the eyes are severely affected. This is the case in 10 to 15 percent of patients with albinism.
Depending on the specific gene that causes albino disease, oculocutaneous albinism has different classifications such as OCA 1A, OCA 1B, OCA 2, OCA 3TYRP, OCA 4SLC45A2.
How is albino treated?
Although there is no clear treatment for albino disease, if it is determined that they are carriers of the albinism gene, genetic counseling should be offered to the parents. If both have the same genetic mutation, the child will be born with albinism. However, if only one parent is a carrier, the child has a good chance of having compensatory genes and producing a normal amount of melanin pigmentation.
Protecting the skin is an important detail for albino patients. Lack of melanin leaves people vulnerable to ultraviolet rays without any natural protection. For this reason, using a strong sunscreen is extremely important for skin health.
Vision problems may vary depending on the type of albinism a person has. Different treatment methods are recommended to the person depending on the severity and current problem. Visual impairment can be corrected with contact lenses or glasses.
In this content, we tried to answer frequently asked questions such as what is albino, why does it occur and how is it treated? All the details we provide are for informative purposes, and let us remind you that you should get the most accurate information about albino from a specialist physician.
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