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Albinism

Overview
Albinism is an abnormality in the production of melanin which causes sufferers to lack melanin or do not have the pigment at all. This condition replaces the color of the hair, skin, and eyes of the person who looks very pale or tends to be white.
Albinism can be suffered by any ethnic group in the world. The term "albino" is common in the ears of the public, which is broadcast to sufferers of this disorder. Although albinism cannot be cured for life, this condition is unavoidable.



Symptoms
  • The skin and hair color of albinism sufferers varies, depending on the level of melanin produced by the body. Although the common albinism sufferers we encounter have characteristics of pale skin with white hair, there are also some who have brown hair.
  • Lack of melanin pigment can cause albinism sufferers to burn easily if exposed to direct sunlight. For patients with albinism, sun exposure should not be underestimated because it is not impossible to lead to serious complications, namely skin cancer.
  • In the eye, the lack of melanin pigment can not only change the color of the iris (generally becomes gray or pale blue), but can also cause the view to be disturbed and sensitive to light. Some examples of eye disorders that can arise due to albinism are farsightedness, farsightedness, astigmatism, squint, and eyeball movements without control from side to side (nystagmus).
  • This visual impairment can affect a baby's ability to learn movements, such as crawling or taking an object. Often times albinism sufferers look awkward due to interference with their vision.
Causes
Albinism is caused by a change or mutation in one of the genes responsible for the production of melanin by the cells of melanocytes that are present in the eyes and skin. As a result of this gene change, melanin production is disrupted, both drastically and completely absent. Changes to this gene will be derived in various patterns.
There are two types of albinism based on symptoms that appear, namely:
  • Ocular Albinism has an impact on the eyes and vision of the sufferer, not or little cause discoloration of the skin or hair.
  • Oculocutaneous albinism is the most common type of albinism. This condition affects the hair, skin, eyes, and vision.
Diagnosis
Albinism can be diagnosed directly by a doctor since the patient is born through their physical characteristics (hair, skin, and eyes) according to what has been explained in the subtitle of the symptoms and types of albinism.

To find out if there is a problem with vision, an ophthalmologist can do several checks. For example, an examination using a special tool called slit lamp, checking the pupils, examining the shape of the corneal arch to diagnose the cylinder, checking the direction of the eyes to diagnose squints, and checking eye movements to diagnose nystagmus.
Although there are no drugs that can cure albinism, treatment or treatment is intended to maximize the patient's vision and protect their skin.
Most babies with albinism will experience severe visual impairment for several months after birth. After that, vision will develop significantly even though it will never reach a normal level of vision.
Therefore, albinism sufferers usually have to wear glasses or contact lenses for a lifetime by an ophthalmologist in accordance with related conditions, for example those specifically for nearsightedness, farsightedness, or cylinders, and undergo routine eye examinations each year.
In albinism sufferers who experience photophobia (sensitive vision to sunlight), doctors will recommend the use of glasses that can ward off ultraviolet light or dark lensed glasses.
Handling of albinism through surgery is rarely done. But for some conditions, such as squint and nystagmus, surgery to repair eye muscles can be recommended so that these conditions are not clearly visible from the outside.
In addition to eye examinations that must be carried out routinely every year, skin examination is also important for albinism sufferers so that doctors know how much they are at risk of developing skin cancer, as well as providing prevention recommendations.
If you suffer from albinism, as much as possible do not do activities outside the home when the weather is hot. If you are forced to go outside, always use sunscreen and clothing that can protect yourself from direct sun exposure.

Complications
Emotional stability and fostering social relationships with people around is a challenge for people with albinism. Albinism sufferers will look different from their families, this can affect their feelings. Albinism sufferers can feel strange or considered like a weirdo. Albinism sufferers can also be mocked about their appearance, starting from getting an albino designation or other designation, to being questioned about the appearance of their skin and hair, to the appearance of their glasses. All of these things can cause albinism sufferers to become stressed, inferior, and feel isolated from the surrounding environment.
Skin disorders experienced make albinism sufferers more susceptible to sunburn and skin cancer.

Prevention
Albinism cannot be prevented. For those of you who have a family history of albinism sufferers, have children with albinism, or you yourself with albinism sufferers are advised to consult with a geneticist. This consultation aims to understand the opportunities for albinism to occur with children, grandchildren, grandchildren, or subsequent offspring.

Treatment & Rehabilitation
NAME OF CONDITION  CONDITIONTREATMENT or REHABILITATION (where available)
Nystagmusregular movement of the eyes, side to side or in circular motionSurgical intervention today minimizes but cannot completely cure nystagmus
Strabismus

 includes “crossed eyes” (esotropia), “lazy eye” or an eye that deviates out (exotropia)
Muscle imbalance in eyesFor strabismus, surgery may improve the appearance of the eyes

In the case of esotropia or “crossed eyes,” surgery may help vision by expanding the visual field (the area that the eyes can see while looking at one point).
PhotophobiaSensitivity to bright light and glarePWAs need light to see just like anyone else. Sunglasses or tinted contact lenses help outdoors. Indoors, it is important to place lights for reading over a shoulder rather than in front.
Near or far sightedness

Usually with astigmatism or some blurriness
far-sightedness or nearsightednessVarious optical aids are helpful to people with albinism including bifocals, strong prescription reading glasses and bioptics* (glasses which have small telescopes mounted on)
Foveal hypoplasiaNo normal development of the inside surface of the eye that receives lightknown as the retinaSee photophobia
Optic nerve misroutingnerve signals from the retina to the brain do not follow the usual nerve routes


• Mayo Clinic (2014). Diseases and Conditions. Albinism. • Downshen, S. Kidshealth (2014). Albinism. • Bashour, et al. Medscape (2016). Albinism. • NHS (2014). Health A-Z. Albinism. • NIH (2015). MedlinePlus. Albinism. • Alodokter, Albinisme

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