Albinism: what it is and what you need to know about it

Albinism is a genetic disease whose main feature is the reduction or absence of melanin on the skin, hair, eyes, etc… Let's find out more.

When we talk about albinism we don't just mean the presence of colorless and therefore very white hair. In fact, albino people suffer from many other disorders that are often underestimated.
In order to better understand this disease still full of unknowns, it is therefore important to start from the assumption that albinism and genetics are closely related and that the various existing forms of this disease depend on the extent of the problem.

Albinism: the causes and symptoms to know

As already mentioned, the disease of albinism depends on a scarce or completely absent production of melanin. This is usually found on the skin, hair and eyes.

Albino eyes are in fact one of the most common manifestations of the disease and can also lead to blindness or other related problems such as, for example, skin cancer .
Among the symptoms, also present in albino children, there are photophobia, astigmatism, myopia, serious vision problems, strabismus and nystagmus . In addition, skin and hair usually appear very light.

To date it is thought that it is mostly a hereditary transmission disease and that it may therefore depend on the mutated genes present in the parents.
For a correct diagnosis, in addition to a comparison with the biological family, a careful medical examination regarding the pigmentation of the skin and hair, an ophthalmological examination and a general medical history are needed. Even bruises, sudden bleeding or frequent infections can in fact be a tangible sign of the disease. It is also possible to carry out genetic tests to identify it.

What forms of albinism exist

Now that we have seen what albinism is, it is important to understand which forms are currently known.
There is the so-called oculotaneous (goose) albinism which is divided into different types in which the first degree is the best known and in which one has light eyes and hair.
The second is less serious and more widespread among Africans and Native Americans.
Then there is type three which is even less serious and which is more easily found in Africa.
The fourth seems to be very similar to the second in terms of characteristics.

X-linked albinism mostly affects males and leads to severe vision problems. Then there are two other variants known as Hermansky-Pudlak syndrome (which can lead to heart, kidney and lung problems) and Chediak-Higashi syndrome which makes sufferers more prone to infections.

How to act in case of albinism

To date, unfortunately, there are no cures but treatments aimed at helping to avoid worsening and guaranteeing as much as possible a good quality of life . In some cases, surgery to reduce the nystagmus may be helpful.
It's important to remember, that albinism is not a disease that gets worse over time. Reason why once you have identified the precautions to take to protect yourself and except in particular more serious cases, you will be able to lead a normal life.