Learn All about Albinism
Albinism is a rare disease characterized by pigmentation alterations in the skin, hair, and eyes. There’s no single type of albinism nor a single form of manifestation.
Albinism is a rare disease that develops through a series of changes in the skin’s melanin pigmentation system. This disease affects the eyes, hair follicles, and skin. The central nervous system may also be affected.
There’s no single variety. Instead, there are many different types of albinism. Additionally, due to the genetic diversity of the entire human population, not all people with albinism manifest the same symptoms, nor do they do so with the same intensity. The only characteristic that encompasses all the different types is the lack of or reduction of pigment in different body parts.
Albinism is a congenital condition, meaning that people are either born albino or not. Thus, people can’t develop the disease later on in life. That’s why many experts prefer to consider it an anomalous condition instead of a disease.
Types of albinism
As we mentioned above, there are many types of this condition. However, we’ll focus on two main types: oculocutaneous albinism (OCA) and ocular albinism (OA). This classification is based on the degree of decreased or lack of pigment in the skin, hair, and eyes.
In the first type, as its name suggests, patients have a decreased or lack of pigmentation in the skin, hair, and eyes. As for the second type, the pigment loss is primarily seen in the eyes.
In turn, these two types can be subdivided into several subtypes, depending on the affected gene. 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 (HPS) and Chediak-Higashi syndrome.
Let’s take a look at the four main types of oculocutaneous albinism.
This type is caused by the absence of the enzyme tyrosinase. This enzyme is responsible for controlling the steps of melanin synthesis.
Type II albinism
This type represents 50% of cases of oculocutaneous albinism. The origin of this type lies in the mutations of the P gene. The function of the protein that encodes this gene is still unknown. However, experts believe that it may be involved in the regulation of the pH of organelles and the accumulation of the glutathione of vacuoles. In this type of albinism, tyrosinase functions properly.
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This type occurs only in people with dark skin. It’s caused by mutations in the gene that encodes the protein related to tyrosinase 1, whose product is important in the synthesis of eumelanin. This compound is the most common within melanin, and it gives color to the skin, hair, and eyes.
Type IV albinism
This is an extremely rare form in which the malfunction lies in a gene that encodes a protein that transports the membrane involved in the processing of tyrosinase. Also, it affects the transport of proteins to the melanosomes, which are organelles that contain melanin. Curiously, it’s the most common type of oculocutaneous albinism in Japan.
There’s no specific treatment for this condition. However, it’s important to know that people with this condition are at a high risk of developing sunburns and skin cancer. That’s why the best treatment is the prevention of these injuries. To do this, the patient must:
- Avoid exposure to direct sunlight.
- Wear sunglasses with UV filters.
- Wear protective clothing.
- Use sunscreen with a high sun protection factor (SPF).
Sometimes, it may be necessary to perform surgery to treat strabismus, which is one of the typical problems 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 condition less noticeable.
While albinism isn’t a life-threatening disease, people who suffer from it are prone to other diseases, such as skin cancer or sunburns. Thus, adequate sun protection, as well as knowing which type of albinism they suffer from, is essential. Medical advice is critical for these patients, as well as the use of high-quality protective creams.