ALBINISM - Symptoms, Causes, Diagnosis And Treatment

Understanding Albinism

Albinism is a disorder that occurs from birth in which sufferers experience a shortage of melanin or pigment did not have it. This condition makes the hair, skin, and eye color looks very pale patient, to tend to white.
Albinism can be suffered by any ethnic group in the world. The term "albino" is generally more familiar to people who refer to people with this disorder. Although albinism can not be cured for life, this condition does not prevent the sufferer to be able to live a life as normal.
ALBINISM - Symptoms, Causes, Diagnosis And Treatment

symptoms Albinism

Skin and hair color albinism patients vary, depending on the level of melanin produced by the body. Although people with albinism commonly encountered has the characteristic pale complexion with blond hair, a portion of which has brown hair.
Due to lack of the pigment melanin, the skin of patients with albinism easily catch fire if exposed to direct sunlight. For people with albinism, sun exposure should not be underestimated because it is not likely to lead to more serious complications, namely skin cancer.
While on the eyes, the lack of melanin pigment can not only change the color of the iris (usually gray or pale blue), but it can also cause the view to be disturbed and sensitive to light. Some examples of eye conditions that can arise as a result of albinism are nearsightedness, farsightedness, astigmatism eye, strabismus, and nystagmus (rhythmic movement without controls) from side to side.
These visual disturbances may affect the infant's ability to learn movements, such as crawling or pick up an object. Often children with albinism look clumsy due to disturbances in vision.

Causes Albinism

Albinism is caused by changes or mutations in one of the genes responsible for assisting the production of melanin by cells of melanocytes are present in the eye and skin. Due to changes in this gene, the production of melanin becomes impaired (reduced drastically or none at all).
There are two main types of albinism, namely ocular albinism and oculocutaneous. Ocular albinism is a rare species. This condition is more visual impact on the sufferer rather than cause discoloration of the skin, hair, or eyes. This means that patients only have visual impairments only. But in appearance, color of skin, hair, and eyes of patients like normal people, although there is a small part that looked a bit paler. Ocular albinism is caused by mutations in genes on the X chromosome and almost majority of sufferers are male.
While albinism oculocutaneous is the most common type of albinism. This condition affects the hair, skin, and eyes, and often referred to as complete albinism. Based on the physical characteristics of the sufferer, oculocutaneous albinism is divided into four types, namely:
  • Type 1. From birth, people with albinism oculocutaneous this type will have the characteristics of hair and white skin, and blue eyes. Although most do not show increased pigmentation to an adult, but some people there who began to produce melanin when entering the age of a child.
  • Type 2. At birth, the skin of patients with albinism oculocutaneous this type will look white with brown eyes or blue-gray. Their hair is yellow, reddish brown, or red. Along with the development of age, sun exposure can lead to freckles, brown spots (lentigo), or even a mole on the skin of the patient. Albinism oculocutaneous mostly found in the native Americans, African-Americans, and people of sub-Saharan African region.
  • Type 3. People with albinism oculocutaneous this type generally have a characteristic reddish hair and skin, and brown eyes. This condition is most commonly found in people of southern Africa.
  • Type 4. This condition is most diidap by the people of East Asian descent and characteristics similar oculocutaneous albinism type 2.
There are other genetic disorders that can also cause the appearance of symptoms similar to albinism, though rare. The disease is the Chediak-Higashi syndrome and syndrome Hemansky Pudlak.
In addition to causing symptoms similar to albinism, Chediak-Higashi syndrome can weaken the immune system and increase the risk of infection. While Hermansky Pudlak syndrome can also cause bleeding disorders.

Diagnosis Albinisme

Albinism can be diagnosed immediately by a doctor since birth sufferers through their physical characteristics (hair color, skin, and eyes) according to what is described in the category of phenomena and other types of albinism.
For problems in vision, ophthalmologists can perform some checks, for example, examination using a special instrument called a slit lamp, checking of pupils, examination arch shape of the cornea to diagnose cylinder, checking the direction eyesight to diagnose squint, and examination of eye movements to diagnose nystagmus.

treatment Albinism

Although there is no cure for albinism, treatment or care intended to maximize patient vision and protect their skin.
Most babies with albinism will experience severe visual impairment for several months after delivery. After that, eyesight would improve significantly despite never reach the level of normal vision. Therefore, people with albinism usually 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 cylinder, and undergo regular eye examinations every year.
If you suffer from albinism and experience photophobia (visual sensitive to sunlight), the doctor may suggest the use of glasses which can counteract ultraviolet or dark monocle.
Handling albinism through surgery is rarely performed. However, for some conditions, such as crossed eyes and nystagmus, surgical repair of the eye muscles can be recommended that these conditions are not clearly visible from the outside.
In addition to eye exams should be done regularly every year, skin examination is also important for people with albinism that doctors know how big their risk of skin cancer, as well as provide suggestions prevention.
If you are patient albinism, as much as possible not to do outdoor activities when the weather is sweltering. If forced to go outside, always use sunscreen and clothing to protect themselves from exposure to direct sunlight.


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