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Albinism - Causes, Symptoms and Albinism Oculocutaneous Treatment

What is albinism ?

Albinism refers to a group of inherited conditions. People with albinism have absent or reduced pigment in their eyes, skin or hair. They have inherited genes that do not make the usual amounts of a pigment called melanin which is essential for the full development of the retina. Lack of melanin in development of the retina is the primary cause of visual impairment in albinism. In the USA it is estimated that one person in 17,000 has some type of albinism. Other parts of the world have a much higher rate; for example, albinism is found in about 20 out of every 100,000 people in southern Nigeria.

There are 10 types of the most common form of the condition, known as "oculocutaneous albinism," which affects the eyes, hair, and skin. In its most severe form, hair and skin remain pure white throughout life. People with a less severe form are born with white hair and skin, which turn slightly darker as they age. Everyone with oculocutaneous albinism experiences abnormal flickering eye movements (nystagmus) and sensitivity to bright light. There may be other eye problems as well, including poor vision and crossed or "lazy" eyes (strabismus).

The second most common type of the condition is known as "ocular" albinism, in which only the eyes lack color; skin and hair are normal. There are five forms of ocular albinism; some types cause more problems-- especially eye problems--than others.

What are the causes of albinism ?

Some people might think albinism is contagious, but it isn't. Albinism isn't like a cold or the flu; it's caused by a person's genes. The main problems of albinism are caused by the inability of the body to produce melanin pigment (whose major role in the skin is to absorb UV light from the sun so skin is not sun-damaged). It also has a role in the development of normal vision of the eye.

Albinism is mostly a recessively inherited disease, which means that you have inherited two albinism genes (one from each parent). If your parents are only carriers of albinism (each having one albinism gene and one normal gene) they will have enough genetic information to make normal pigment and will not show any signs of albinism.

Albinism of just the eyes also occurs. This is called ocular albinism. In this form of albinism, skin color is usually normal and eye color may be in the normal range. However, examination of the eye will show that there is no pigment in the retina. Individuals with albinism (called albinos) generally have white hair and pale skin which makes them stand out. Often hair pigmentation is not completely absent (white) but shows a pale or medium blonde. Often the affected persons are paler in complexion as the rest of the family. The myth that all persons with albinism have "white hair and red eyes" is not true.

What are the symptoms of albinism ?

Symptoms of albinism can involve the skin, hair, and eyes. The skin, because it contains little pigment, appears very light, as does the hair. Although people with albinism may experience a variety of eye problems, one of the myths about albinism is that it causes people to have pink or red eyes. In fact, people with albinism can have irises varying from light gray or blue to brown. Some common symptoms of albinism inculdes:

• Absence of pigment from the hair, skin, or iris of eyes.
• Patchy absence of pigment (skin color, patchy) including in the carrier-mothers of affected boys with X-linked recessive albinism.
• Lighter than normal skin and hair or complete albinism.

Most forms of complete albinism have some of the following possible symptoms:

• Rapid eye movements (nystagmus).
• Strabismus (eyes not tracking properly).
• Photophobia (avoidance of light because of discomfort).
• Decreased visual acuity.
• Functional blindness.

Albinism Treatment

Treatment aims to ease symptoms and depends on the extent of the disorder. Doctors can only treat, not cure, the eye problems that often accompany the lack of skin color. Glasses are usually needed and can be tinted to ease pain from too much sunlight. There is no cure for involuntary eye movements (nystagmus), and treatments for focusing problems (surgery or contact lenses) are not effective in all cases.

• Crossed eyes (strabismus) can be treated during infancy, using eye patches, surgery or medicine injections. Treatment may improve the appearance of the eye, but it can do nothing to cure the underlying condition.
• Patients with albinism should avoid excessive exposure to the sun, especially between 10 a.m. and 2 p.m. If exposure can't be avoided, they should use UVA-UVB sunblocks with an SPF of at least 20. Taking beta- carotene may help provide some skin color, although it doesn't protect against sun exposure.

Albinism Prevention

• As this is a large group of inherited conditions genetic counseling is important. Genetic counseling should be considered for individuals with a family history of albinism or hypopigmentation.
• Astigmatism - An eye condition in which the lens doesn't focus light evenly on the retina, leading to problems with visual sharpness.
• Gene - The basic unit of genetic material carried in a particular place on a chromosome. Genes are passed on from parents to child when the sperm and egg unite during conception.

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