In albinism, a genetic effect causes a deficiency or complete absence of melanin. Among other things, melanin is responsible for the formation of pigments in the skin, eyes and also hair. Albinism, which does not only occur in humans, can become a very conspicuous disease to the outside world. Affected individuals are often referred to as albinos, but for many patients this represents lead denigration or discrimination.
What is albinism?
Oculocutaneous albinism is best known for its light to white hair and fair skin. Albinism is one of the hereditary diseases that can be passed on even from normally pigmented parents because the genetic defect is recessive – that is, receding. It is manifested by absent or limited production of the pigment melanin. Albinism is divided into several groups. One main group is ocular albinism, in which only the eyes are affected and thus also the ability to see at the same time. The other main group is oculocutaneous albinism, which is best known to the public for its light to white hair and fair skin. In both variants, affected individuals suffer moderate to severe limitations in their vision. In oculocutaneous albinism, there is an increased risk of skin cancer from sunlight exposure due to the lack of pigmentation in the skin.
Causes
Albinism is caused by the lack of ability of the cells responsible for pigment production to produce melanin. Crucial enzymes are lacking to initiate or drive this production to a sufficient degree. This deficiency is due to a genetic defect, but it is associated with several genes and chromosomes. All of them have an influence on a crucial process in melanin formation. In addition, albinism occurs in association with other genetic defects, among which is the now better known Prader-Willi syndrome. In ocular albinism, the cause of vision problems is also the lack of melanin. In addition to the color formation of the iris, this is also responsible for the fact that the fundus of the eye lacks the necessary melanin, there is a noticeable eye tremor, and the optic nerves of people suffering from albinism are not fully developed.
Symptoms, complaints, and signs
The symptoms and complaints of albinism are usually relatively clear. However, they do not result in decreased health or other serious conditions, so most patients do not suffer from decreased life expectancy. Affected individuals primarily exhibit pigmentary abnormalities in albinism. The skin can also be completely white or even dull and pale in color. Even sunlight does not change the color of the skin in most cases. Due to albinism, the patient’s hair is often also affected, so that it also appears white, dull or yellowish. Likewise, there is a defective vision, so that those affected are either short-sighted or long-sighted. Furthermore, albinism does not lead to further complications or discomfort. Due to the high sensitivity of the skin to sunlight, however, the risk of skin cancer increases enormously, so that those affected are dependent on regular examinations. The manifestation of albinism can also be very different, so that not all symptoms have to occur together. Likewise, the disease can lead to psychological discomfort or depression, as patients are often disregarded because of their appearance or bullied, especially at school.
Diagnosis and course
In clearly expressed albinism, the diagnosis is initially a simple visual diagnosis. Even in the baby, the light skin is conspicuous, as is the colorless hair. Contrary to the general opinion, the eye color is not always red. Mostly a light blue is present. Only in complete albinism the iris lacks pigmentation. During the examination, the pediatrician finds a transparent iris, in which the veins are clearly visible as a reddish glow. The diagnosis is confirmed by a genetic test. The lack of pigmentation of the skin requires special caution in sunlight from the beginning. People with albinism have no pigment protection of the skin and live with an increased risk of skin cancer.
Complications
Albinism can be more or less severe.In some, only the pigmentation of the eye is affected, and this is called ocular albinism. The color of the skin and hair is normal. However, the lack of pigmentation of the eyes leads to a wide variety of eye problems, such as strabismus or sensitivity to light. In extreme cases, the entire melanin production is defective, resulting in white hair, extremely pale skin and unusually bright eyes that are very sensitive to light. In technical jargon, this is referred to as oculocutaneous albinism (OCA), i.e. albinism that affects both the eyes and the skin. Depending on the severity, a distinction is made between different subtypes – from OCA 1 a/b to OCA 4. In very rare cases, affected individuals suffer not only from the lack of pigmentation, but also from a higher risk of infection, neurological problems or pulmonary, intestinal and bleeding disorders. However, these cases are extremely rare. Detailed information on the subject of albinism can be found by those affected on the pages of the non-profit online self-help group “NOAH”.
When should you go to the doctor?
Albinism is diagnosed when a person is born and should also be examined by a doctor immediately. During the initial examination of an affected newborn, the doctor will pay particular attention to the development of physical functions that may be affected by albinism. Of course, it may not be until later that a child with albinism is found to have physical problems. It is important for the parents of such a child to be aware of what symptoms would indicate that their child should be examined by a doctor. For example, if problems with vision occur, this is normal for albinism, but should be treated immediately. Many people live with albinism without major problems or congenital and acquired disorders, but are exposed to other risks and challenges. This is especially true of the skin’s sensitivity to light. If people with albinism notice visible changes in the skin such as redness, pain or raised areas, they should see a dermatologist sooner rather than later. Albinism carries with it an increased risk of skin cancer due to its high susceptibility to damage from UV radiation. In the case of forms of albinism that cause significant problems, including physical and mental disability, regular medical appointments must be made. These serve to monitor the health of the affected person as well as to identify further problems in a timely manner. In cases of severe disability, placement in a home with trained caregivers may be appropriate.
Treatment and therapy
A cure for albinism is not possible. However, the defect is not life-shortening. Due to the increased risk of skin cancer, a comprehensive examination for skin abnormalities should be performed regularly. More burdensome for those affected by albinism is the limitation of vision. They have only limited vision, which in severe cases can be as low as 10 percent. Visual aids are indispensable and make it easier to cope with everyday life. Most people suffering from albinism cannot or should not drive a vehicle because they cannot see even larger objects with certainty. In addition to physical aids, psychological support is recommended in some cases if the affected person suffers from his or her conspicuous appearance. In some cultures, especially on the African continent, the appearance of albinism is associated with social exclusion. Traditionally, in many regions there, people suffering from albinism are considered a bad omen or cursed. This devaluation has not been able to form to this degree in Western cultural circles, since among fair-skinned Western Europeans, people with albinism have rarely been noticed with such distinctness.
Outlook and prognosis
In most cases, albinism itself does not cause any particular health limitations or symptoms. However, albinism can cause significant psychological distress due to discrimination. Especially children can thereby become victims of bullying or teasing, which can lead to significant psychological discomfort or depression. Those affected suffer from very white and pale skin and pigmentation disorders. These can appear all over the body, but do not pose any particular health risk to the patient. The hair is also usually white.Furthermore, those affected suffer from increased sensitivity to light and discomfort in the eyes. The main symptoms are farsightedness or nearsightedness. However, these complaints can be compensated by glasses or contact lenses. As a rule, albinism also leads to an increased risk of various infections and inflammations. Treatment of albinism is not possible. However, those affected often require psychological support. The life expectancy of patients with albinism is not reduced and their everyday life is at least not limited due to the disease itself. Furthermore, there are no particular complaints or complications. However, the risk of skin cancer in the patient may also be increased due to albinism.
Prevention
Prevention of albinism as a typical hereditary disease is not possible. Except for vision impairment, the occurrence of this genetic defect is not associated with severe limitations for affected individuals. However, those affected must be disciplined in observing protective measures against sunlight to avoid cancer, so that albinism cannot show any health-threatening effects.
Follow-up
One of the purposes of follow-up care is to ensure that a disease does not recur. However, since albinism is not curable, this cannot be the goal of medical follow-up. The aim is rather to prevent complications and to support patients in their everyday lives. Affected persons consult a doctor in case of acute symptoms. Regular check-ups are rare. Affected persons receive extensive information about the effects of the disease when they are first diagnosed. Albinism does not cause a shortening of life span. Preventive measures include above all skin protection. The largest human body organ is exposed to UV rays almost unprotected. Patients must avoid direct sunlight. The strong midday heat brings the greatest risk. Sun creams with a high sun protection factor should be used. Sometimes sufferers of the defect also suffer from impaired vision. Glasses provide a remedy. Characteristic is the white and pale skin. It sometimes requires psychological aftercare. Children and adolescents in particular regularly find their otherness stressful. They are not infrequently exposed to the taunts of their peers. Sometimes those affected complain of disadvantages at work. A doctor can prescribe psychotherapy. This can prevent depression and anxiety disorders.
What you can do yourself
Albinism is a disease that is not curable since it is due to a genetic defect, is a hereditary disease. Therefore, the affected person must live with albinism and adjust his daily life to his special needs. Sunbathing should be strictly avoided, because of the lack of melanin in the skin and sometimes in the iris of the eyes, the skin burns quickly. In general, hours in the sun should be avoided, especially in summer. When leaving the house, the affected person must take care to wear a hat and clothes that can protect him from the harmful UV rays of the sun. Especially the eyes of patients with albinism are particularly sensitive to the sun, insofar as they are affected by the hereditary disease. Wearing sunglasses is therefore essential. Albinism varies in severity, so patients must address their particular needs and discuss them with a doctor. Often, the vision of patients with albinism is severely limited, so a visual aid, such as eyeglasses, must be available. In addition, patients are often not allowed to drive a car due to the visual impairment. Therefore, they rely on public transportation or friends and family to do everyday things.
