What is Albinism?
What is Albinism? Albinism is an abnormality that occurs at birth where the sufferer has a melanin deficiency or does not have the pigment at all. This condition makes the hair, skin, and eyes of the patient look very pale color, until it tends to white.
Albinism can be suffered by any ethnic group in the world. The term “albino” is generally more familiar in the ears of the community that refers to people with this disorder. Although albinism can not be cured for life, this condition does not prevent the sufferer from being able to live a normal life.
Symptoms of Albinism
The skin color and hair of albinism sufferers vary, depending on the level of melanin produced by the body. Although common albinism sufferers we have characteristic pale skin with blond hair, there are also some who have brown hair.
Due to the lack of melanin pigment, the skin of the sufferer of albinism is easily burned if exposed to direct sunlight. For people with albinism, this sun exposure should not be underestimated because it is not possible to lead to more serious complications, namely skin cancer.
While in the eye, the lack of melanin pigment not only can change the color of the iris (generally gray or pale blue), but also can cause the view to be disturbed and sensitive to light. Some examples of eye conditions that can arise from albinism are nearsightedness, nearsightedness, cylindrical eye, squint, and nystagmus (uncontrolled rhythmic movements) from side to side.
This visual impairment can affect the baby’s ability to study movements, such as crawling or picking up an object. Often children with albinism seem awkward due to impaired vision.
Causes of Albinism
Albinism is caused by changes or mutations in one of the genes responsible for the production of melanin by the melanocytes cells present in the eyes and skin. As a result of these gene changes, melanin production becomes disturbed (reduced drastically or none at all).
There are two main types of albinism, namely ocular albinism and okulokutaneus. Ocular albinism is a rare species. This condition is more impact on the eyesight of the sufferer rather than cause skin color, hair, or eyes changes. That is, the sufferer only experience visual disturbances. But in appearance, the color of the skin, hair, and eyes of people like normal people, although there is a small part that looks a little more pale. Ocular albinism is caused by gene mutations on the X chromosome and most of the sufferers are male.
Whereas oculocutaneous albinism is the most common type of albinism. This condition affects the hair, skin, and eyes, and is often referred to as complete albinism. Based on the physical characteristics of the sufferer, the oculocutaneous albinism is divided into four types, namely:
- Type 1. From birth, this type of oculocutaneous albinism sufferers will have white hair and skin trait, and blue eyes. Although most do not show an increase in pigmentation until adulthood, but some sufferers have started producing melanin when entering childhood.
- Type 2. At birth, the skin of this type of oculocutaneous albinism patient will appear white with brown eyes or bluish gray. Their hair is yellow, reddish brown, or red. Along with the development of age, exposure to sunlight can cause freckles, brown spots (lentigo), or even a mole on the patient’s skin. Oculokutaneus albinism is mostly found in native Americans, African-Americans, and sub-Saharan African peoples.
- Type 3. Patients with this type of oculocutaneous albinism generally have the characteristics of reddish hair and skin, and brown eyes. This condition is most prevalent among South Africans.
- Type 4. This condition is most widely affected by people of East Asian descent and its features resemble the type 2 oculocutaneous albinism.
There are other genetic disorders that can also cause albinism-like symptoms, although they are quite rare. The disease is Chediak-Higashi syndrome and Hemansky Pudlak syndrome.
In addition to causing albinism-like symptoms, Chediak-Higashi syndrome can weaken the immune system and increase the risk of infection. While the Hermansky Pudlak syndrome can also cause bleeding disorders.
Diagnosis of Albinism
Albinism can be diagnosed directly by doctors since the patient is born through their physical characteristics (hair color, skin, and eyes) in accordance with what has been described in the categories of symptoms and types of albinism.
To detect vision problems, the ophthalmologist may perform several checks, such as checks using a special instrument called a slit lamp, checking the pupil, examining the shape of the corneal arch for diagnosing the cylinder, examining the sight of the eye for diagnosing squint, and examining eye movements for Diagnose nystagmus.
Although there is no cure for albinism, treatment or treatment is aimed at maximizing the eyesight of the sufferer and protecting their skin.
Most infants with albinism will experience severe vision problems for several months after birth. After that, the vision will grow significantly even though it will never reach the normal vision level. Therefore, people with albinism usually have a lifetime to wear glasses or contact lenses prescribed by an ophthalmologist in accordance with the relevant conditions, such as those specifically for nearsightedness, farsightedness, or cylinders, and undergo regular eye examinations each year.
If you suffer from albinism and experience photophobia (sun sensitive vision), your doctor may recommend wearing sunglasses that can counteract ultraviolet or dark lens glasses.
Handling albinism through surgery is usually rare. However, for some conditions, such as squint and nystagmus, repair surgery of the eye muscles may be recommended so that the conditions are not clearly visible from the outside.
In addition to eye examinations that should be done routinely every year, skin examination is also important for albinism sufferers so that doctors know how much their risk of skin cancer, and provide preventive advice.
If you are albinism sufferer, do not do as much activity outdoors when the weather is hot. If forced to go outside, always use sunscreen cream and clothes that can protect themselves from direct exposure to sunlight.