All About Albinism
Albinism is a rare disease that develops from a series of alterations in the melanin pigmentation system. In this disease the eyes, hair follicles and skin are affected. The central nervous system can also be affected.
There is not just one variety, but many types of albinism. Additionally, due to the genetic diversity of the entire human population, not all albino people manifest the same symptoms or do so with the same intensity or relevance. The only characteristic that encompasses the different types of albinisms is precisely the lack or reduction of pigment in different parts of the body.
In addition, it is a congenital condition, that is, people are born albino, they do not become albino throughout life. That is why many experts prefer to consider it as an abnormal condition and not as a disease.
Types of albinism
As we have advanced, there are many types of albinism. However, we will focus on the two main types: oculocutaneous albinism (OCA) and ocular albinism (OA). This classification is based on the degree of decrease or absence of pigment in the skin, hair and eyes.
In the first type, as its name suggests, patients present this decrease or absence of pigmentation in the skin, hair and eyes. As for the second condition, this loss of pigmentation is seen primarily in the eyes.
In turn, these two types can be subdivided into several, depending on the gene that is affected. Oculocutaneous albinism is more common than the other variety, and has four main types, along with other less common and complex forms: Hermansky-Pudlak syndrome and Chedial-Higashi syndrome.
Let’s see below the 4 main types of albinism of the oculocutaneous type.
Type I
It is caused by the absence of the activity of the enzyme tyrosinase. This is responsible for controlling the steps for the synthesis of melanin.
Type II
It represents 50% of the cases of all types of oculocutaneous albinism. The origin of this type is in the mutations of a gene – the gene p. The function of the protein that this gene encodes is still unknown.
However, it is thought that it may be involved in the regulation of the pH of the organelles and the accumulation of glutathione in the vacuoles. In this type of albinism, tyrosinase works properly.
Type III
It only occurs in people who have dark skin. It is caused by mutations in the gene that encodes the protein related to tyrosinase 1, the product of which is important in the synthesis of eumelanin. This compound is the most common of the melanins, giving color to the skin, hair and eyes.
Type IV
It is an extremely rare form in which the defect is in a gene that encodes a membrane transport protein involved in tyrosinase processing.
The transport of proteins to melanosomes, which are organelles containing melanin, is also affected. As a curiosity, it is the most common type of oculocutaneous albinism in Japan.
Treatment of albinism
There is no specific treatment for albinism. Patients are at high risk for sunburn and skin cancer. That is why the best treatment is the prevention of these possible injuries. For this you must:
- Avoid exposure to direct sunlight
- Wear sunglasses with an ultraviolet filter
- Wear protective clothing
- Use sunscreen with a high protection factor
Sometimes it may be necessary to perform surgery to treat strabismus, which is one of the typical disorders associated with albinism. Strabismus is the inability of both eyes to focus on the same point or move at the same time. Surgery to correct strabismus can help make the disease less noticeable.
Conclution
Although albinism is not a life-threatening disease for patients, people who suffer from it are prone to other pathologies such as skin cancer, or to suffer from sunburns.
Adequate sun protection, as well as understanding the type of albinism, is essential in order to cope with the disease as well as possible. Medical advice will be essential for these patients, and also the use of relevant, high-quality creams and protectors.
