Albinism

Albinism is disease with genetic causes that decreases the production of melanin in the skin. Melanin is the key pigment found in the skin, eyes and hair, which gives them their color. Since they lack melanin, people who suffer from albinism will have a lighter skin color compared to others with the same ethnicity.

Besides the effect on the color of the skin, albinism always causes vision problems, although the exact nature can vary. The disease greatly increases the risk of sunburns and skin cancer. This is because the role of melanin is to protect the skin from the destructive action of ultraviolet radiation found in natural sunlight.

The condition is genetic and inherited, being caused by a mutation in several key genes. All of these genes regulate the activity of melanocytes found in the skin or eyes, which are the cells that produce melanin. The most common mutation disrupts the production of melanin from an amino acid named tyrosine. The process is stimulated by the enzyme tyrosine 3-monooxygenase, also known as tyrosinase, which is affected by the genetic mutation.

In some cases, melanin production is very low while in others it stops completely. This depends on the type of mutation but the problems with vision are always present, regardless of how much pigment is produced at skin level. This is because melanin actually plays another important role in the body. It is part of the neural links between the eyes and the brain, as well as the structure of the retina, so a lack of it directly influences the visual function.

What are the symptoms of albinism?

Albinism has multiple symptoms, which are usually divided into four separate categories. The most visible and noticeable effect is a lighter or discoloured skin tone. However, this can be misleading, since some people can have almost the same tone as a normal person. The level of pigment in the skin of some people increases with time and they become darker with age. The lack of melanin makes skin vulnerable to sun damage. After UV exposure, individuals with albinism can develop freckles, a larger type of freckles named lentigines, as well as pink moles.

The lack of melanin also affects the color of the hair, which is lighter than normal. The color varies from completely white to light brown, while people with Asian or African roots can also have yellow or red hair. Similar to the skin, the level of melanin in the hair can increase in time, making it darker at a more advanced age.

Eye color is also impacted by albinism, it can vary from pale blue to brown and it also becomes darker with age in some cases. Since the iris lacks the normal amount of melanin, it can have a strange translucent aspect. The eyes can also appear to be red or pink in color but this is just an illusion, caused by the light reflecting off the retina. The low amount of pigment makes the iris unable to block sunlight, so albinism patients are photosensitive, or more sensitive to light than usual.

As mentioned, albinism always impairs vision, although there can be a number of different problems. Some of the most common are a rapid and unwilling eye movement (nystagmus), the lazy eye symptom (scientifically known as amblyopia), as well as strabismus, when the two eyes are not coordinated and look in different directions. People with albinism can also suffer from astigmatism, which is unclear vision due to the lens in the front of the eye not being flexible enough, as well as a vision focused either too close or too far and photophobia. The lack of melanin sometimes causes the optic nerve to be poorly developed (hypoplasia of the optic nerve) or for the retina to communicate with the brain through strange routes (misrouting of the optic nerve).

Newborns have the worst vision problems caused by albinism but these always improve in time. The fastest progress is during the first six months of life and can continue afterwards, without ever healing completely.

Treatment options

Albinism is a genetic condition so no real treatment exists. However, its symptoms can be treated and it is important to monitor the health of the eyes and any serious skin problem, especially in kids.

Kids should be consulted by a specialist eye doctor (ophthalmologist) at least once per year and prescription lenses might be required. Nystagmus can be corrected through surgery if your doctors decides it is the best course of action, even if surgery of the eye muscles is rarely performed. It can also reduce strabismus but this only has esthetic results, while vision remains the same.

The skin of children should also be checked every year. The lack of melanin makes it very vulnerable to sun damage, which can cause cancer. The annual skin and eye exams must also continue for adults who suffer from this disease. Since albinism has many symptoms that are hard to manage, psychological therapy can help both patients and their families. It is especially important to understand that albinism is a genetic disease, with a high chance of transmission to children.

Kids are especially affected by the vision problems caused by albinism. This can be a problem in school, since they sometimes need glasses to be able to see objects at a distance. The visual problems can restrict future career choices, as well as prevent some people from driving properly. In order to minimize learning problems, teachers should cooperate with students in order to find the right seating and lighting combination. People who suffer from albinism have a normal IQ, the disease rarely causes any intelligence issues.

People with albinism should also protect themselves against sunlight in order to avoid skin cancer and other lesions that can evolve into it. Using sunglasses, sunscreen and large hats are some of the recommended measures.

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