Lack of congenital or pigment deficiency involving the iris, hair or skin. These pigments have a protective role in the sense that melanin protects the skin from the sun rays` action.
Melanin plays an essential role in the development of optical nerves. Due to this reason, all forms of albinism may lead to issues in the functioning and development of the eyes. Although there`s no cure for this illness, those who experience this particular disorder can take various measures to improve vision as well as avoid long exposure to the sun. Albinism doesn`t limit intellectual development whatsoever, although people with this birth defect frequently feel socially isolated and may be discriminated.
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What Is Albinism?
A collective term used for a lot of relatively associated affections, mainly because of a lower level of melanin compared to the rest of the people. Here`s exactly how these 2 are related: melanin is synthesized into special cells and has the role of coloring the eyes, hair and skin, while protecting them at the same time (absorbs UV rays); it also helps in correct developing and functioning of vision (this is also the reason for which the illness affects vision). Thus, due to lack of melanin, albinism leads to the coloration of the skin and hair in white (in light cases, a slight difference is seen compared to the relatives), but it`s not under any contagious form.
The skin is very white, the hair has a very light color, the iris is very open and has a gray-blue color and experience sight issues and tolerance of the sun`s radiation. People with this congenital disorder may present an increased risk of skin cancer.
All people with this disorder need to avoid the sun for their entire lives, use protective creams and wear glasses (both with high anti-UVA UVB protection).
Albinism affects people of all races or ethnicities and is a lot more common that you may think; statistics indicate that 1 out of 17.000 people confront with this issue around the world (in certain populations, 1 in 200 births). Most types of albinism are recessive, meaning that the child receives an abnormal gene affected than the X chromosome girls), in a lot of cases parents having normal pigmentation (1 out of 75 cases). Mutation may occur in the following areas:
- The place of melanin creation.
- The proteins that create it.
- The parts of the cells that store and distribute it.
This particular medical condition is caused by a defect in melanin metabolism and is characterized by an absence of this pigment which protects the skin from the sun`s rays. Melanin is produced by melanocytes, which can be found in eyes and skin. A mutation might result in a lack of melanin production or a low level its values.
In a lot of cases of albinism, in order to manifest this particular disease, a person needs to have 2 copies of a mutant gene – one of each parent. If the person only has one copy, the medical condition won`t develop.
The Impact of Mutation on Eye Development
No matter of what genetic mutation is present visual impairment is a feature encountered in all cases of albinism. This is caused by poor development of the nerve pathways from the eye to the brain and by the normal development of the retina.
Recent research based on DNA analysis has made a more accurate classification of albinism as follows:
- Oculocutaneous albinism type 1 (OCA1 or tyrosinase related albinism) which occurs following a genetic error in an enzyme known as tyrosinase (aids the body modify the tyrosine amino acid in pigment). In turn, it splits into OCA1A when the enzyme is inactive and no melanin is produced at all, which results in an open skin and white hair, and OCA1B when the enzyme is minimally active and a small amount of melanin is produced leading to hair that can be dark/orange/blonde and more pigment on the skin.
- Oculocutaneous albinism type 2 (OCA2 or P gene albinism) which occurs following a genetic P protein error which helps the tyrosinase enzyme function; a minimal melanin amount is produced, and the hair might have a blonde or dark color. This is the most common occurrence, as it`s found in 1 out of 36.000 Caucasians in the United States and 1 out of 124 in Kuna aborigines in Panama.
- Albumin oculocutanate type 3 (OCA3) is very rarely described and occurs following a genetic error in TYRP1 a tyrosinase-linked protein; the affected people might experience significant pigmentation.
- Oculocutaneous albinism type 3 (OCA4) which occurs following a genetic error in the SLC45A2 protein which aids the tyrosinase enzyme function; a minimal melanin and pigment amount is produced similar to those with OCA2.
However, there`re other identified genes underlying albinism, one of the groups including at least 8 genes leading to Hermansky-Pudlak syndrome (a rarely associated type associated with bleeding and rebounding issues); Prader-Willi syndrome and Angelman syndrome (albinism occurs alongside mental disability). Some types of Hermansky`s syndrome are associated with pulmonary and intestinal illnesses. However, there are also complex illnesses in which pigmentation is lost in a particular area, such as Chediak-Higashi syndrome )lack of pigment on the skin, but not complete, there`s also a blood, immune and neurological disorder), sclerosis Tuberous (small areas without pigment), Waardenburg syndrome (lack of hair on the forehead or lack of color in one/both iris).
Signs & Symptoms
The signs of albinism are usually, but not always, apparent to a person who experiences this condition, in the form of changes in the color of the eyes, skin or hair. No matter the effect of albinism on appearance, all patients experience vision issues.
The easiest way to recognize albinism is by the skin of a milky white. The skin`s pigmentation might range from white to that of the parents or brothers who don`t experience this medical condition. In the case of people with albinism, skin pigmentation never changes. For other ones, melanin production might start to grow during childhood or adolescence, resulting in small changes in pigmentation.
By exposure to the sun, some people may develop:
- Moistened with or without pigment;
- Large spots similar to freckles;
- The ability to tan.
Hair color may range from very white to dark brown. People originated from Africa or Asia who experiences this medical condition might have the hair color: brown, blond or red. The hair color can change from early maturity.
Eye color might range from very light blue to brown and may change with age.
Due to lack of pigmentation of the iris, the eyes become translucent. This means I cannot completely block the light that comes into my eyes. For this reason, the eyes with an open color can sometimes look red at some angles of light. This is explained by the light being reflected in the back of the eye and then passing back through the iris – a look similar to the red eye effect which appears in a picture.
The signs of this condition that occur in eye function may include:
- Rapid and involuntary eye movements (nystagmus);
- The inability to fix both eyes at the same point or to move it at the same time (strabismus);
- Myopia or advanced hypermetropia;
- Sensitivity to light (photophobia);
Tests & Diagnosis
A complete diagnosis of albinism will include physical examination, pigment history, deep eye examination as well as a description of pigment changes. The pigmentation history includes a comparison of your child`s pigment with that of other family members to determine your own level of affection. The doctor might ask for info about any changes you have noticed in the eye, hair or skin color of your child. Ophthalmologist will thoroughly analyze the eyes` health. – Read this!
The examination will also include an assessment of the potential of strabismus, photophobia and nystagmus. For this particular purpose, a device for retinal analysis will be used and to determine if symptoms of abnormal development may be present. Also, the electroretinogram might be needed to measure the brain waves produced when the light shines in the eye, which might indicate the presence of malformations in the optic nerves. If one child`s eye may be affected, the cause might be other than albinism.
You should know that there`s no specific treatment for this particular illnesses, but rather an improvement in signs and prevention of possible complication. Therefore, in order to improve vision, your doctor may recommend goggles or contact lenses, but also books with large print or high-performance computer/software which may convert speech or word-of-speech, tablet, and smartphones to enhance the image for ease of writing and viewing images (synthesizers). Sunglasses aren`t a fad for people with albinism because they help fight photophobia; some items can completely block UV rays. If used early, eye patches may treat strabismus as an ophthalmic eye surgery, known as tenotomy of the horizontal eye muscle, which separates and repatches some of the muscles of the eye to reduce the frequency and severity of eye movements. There are also a lot of tricks which can be called how to position a finger on the eye or on the head for reducing nystagmus while reading. – More details!
It`s extremely important to protect your skin from sunlight, but it`s not required to completely avoid light. Therefore, the following precautions must be observed:
- Avoiding the sun between 10.00 and 16.00;
- Caution in snow and sand (reflecting the rays);
- Applying sunblocks/sunscreens with a high factor of 30 minutes before exposure throughout the body.
- The recommended clothes are the ones with dense fibers, but which also breathe; also, large birch hats;
- Remember that sunburn might occur on cloudy days (UV rays pass through the clouds);
- If they don`t call for proper protection, affected people may develop skin issues or even cancer, which may occur in darker-looking parts which look similar to freckles (there are portions of discoloration where protein and fat in the cells have been destroyed).
In the end, you should know that you can live with this medical condition, but in the case of children there might be a marginalization, so it`s often necessary for a family therapist to find out how the children can be helped to cope with the social environment. Technological innovations can be helpful in carrying out the usual activities, even involving in sports.