This is a medical condition that affects approximately one in seventeen thousand people. In animals it is often fatal but in humans it has almost no impact on their overall health or life expectancy but it can affect your vision to different degrees.
When a person has albinism they have hypo-pigmentation which is the loss or lack of natural skin color caused by a decreased level of melanin. This is the substance that gives your skin color, or pigmentation. It is either oculocutaneous which means it affects your eyes, hair, and skin or ocular, which means that it affects the eyes alone.
Ocular albinism accounts for ten to fifteen percent of all cases of albinism. If you have a child that has albinism you should be vigilant and if you notice any abnormal bruising or bleeding you should talk to their pediatrician.
The most factors that stem from having albinism is psychosocial because there is still some prejudice that exists toward anyone who is different from them. It can be particularly hard on someone who lives in a nation where most of the people are dark-skinned. In some cultures there are false beliefs that when a person lacks pigmentation it means that they are cursed or that having albinism causes sterility.
The symptoms of having ocular albinism can include:
- Having eyes that are violet or light blue in color but not completely white as often believed
- Vision that varies and can included far-sightedness or near-sightedness
- Having nystagmus, which means that your eyes would move back and forth rapidly
- Having lazy eye which means one of your eyes does not see with the same visual acuity as the other eye
- Having crossed eyes
- Having sensitivity to light
- Legal blindness in some cases
- Having strabismus which is when your eyes do not fixate and track together.
The symptoms of having oculocutaneous albinism can include:
- Having hair and skin that are very light
- Having hair that is blond and sometimes it can be red
- Having vision conditions that are associated with ocular albinism
Albinism is an inherited medical condition and a person who has it will usually inherit a recessive gene that is responsible for this condition from each one of their parents. There are different gene defects that cause oculocutaneous albinism (OCA) and ocular albinism (OA).
Within this type of albinism there are four different types along with a subcategory. These types include:
- OCA 1 – this is caused by a defect in the tyrosinase enzyme which helps to control the production of melanin. There are two subspecialties in this type.
- OCA 1a – when a person has this subtype there is a complete absence of melanin and they have very pale skin, light eyes, and white hair.
- OCA 1b – when a person has this subtype they are able to produce some melanin and have light-colored hair, eyes, and skin
- OCA 2—this is a less severe form than OCA1 and is caused by a defect in the OCA2 gene that results in a decrease in the production of melanin. A person who has this type have light skin and their hair may be light brown, yellow, or blond. They do have slight coloring. This type is common in African Americans, Native Americans, and Sub-Saharan Africans.
- OCA 3—this type is caused by a defect in your TYRP1 gene, which plays an important role in the melanin pathway, and will usually affect people who are dark skinned, particularly in black South Africans. This person would have brown or hazel eyes, reddish hair and reddish-brown skin.
- OCA 4—this type is caused by a defect in the SLC45A2 protein, which provides the instructions for making the protein that is located in specialized cells that are called melanocytes. The melanocytes produce the pigment that is called melanin. This type results in a person having a minimal production of melanin. It is more commonly found in people of East Asian descent and people who have this type have symptoms that are similar to the ones found in OCA2.
This type is caused by a gene mutation on the X chromosome. It happens almost exclusively in men and only affects your eyes. People with this type will have normal skin, eye coloring, and hair but will have no coloring in their retina, which is found in the back of your eye.
The best and most accurate way to diagnosis albinism is through genetic testing. This would be done to detect any defective genes that are related to albinism. There are other ways but they are less accurate. These ways would include having an electroretinogram test which is a test that measures the response of the light-sensitive cells in your eyes in order to reveal any problems with your eyes that can be associated with albinism or an evaluation of your symptoms by your physician.
There is no known treatment for albinism at this time but there are treatments to help improve the quality of life for a person with albinism. The treatment for having ocular albinism or oculocutaneous albinism focuses on reducing, repairing and helping to prevent damage from the sun. It can include:
- With light sensitivity when outside wear high quality sunglasses
- For lazy eye training of the eye
- Other vision problems can be addressed with wearing glasses
- Having surgery on the muscles of your eyes to correct your vision problems.
- Wearing the right SPF sunscreen and clothing to protect your skin from the UV rays of the sun
When a person has hypo pigmentation the most preventative care is to use sunscreen of at least twenty SPF or higher when you go outside, even if you are riding in a car. Some people with Type 2 may have the ability to tan but with the lack of melanin in Type 1 and 2 can lead to an increased risk of skin cancer later. This is why some people believe that when you have albinism it shortens one’s life span but in reality people with albinism often live longer. If you live in an area where sunscreen is not available or you do not use sunscreen or the right SPF, it will often result in having melanoma, which is skin cancer that is fatal.
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