What is Albinism?
March 1st, 2010 | 
Author: The word “albinism” refers to a group of inherited conditions. People with albinism have little or no pigment in their eyes, skin, or hair. They have inherited altered genes that do not make the usual amounts of a pigment called melanin. One person in 17,000 in the U.S.A. has some type of albinism. Albinism affects people from all races. Most children with albinism are born to parents who have normal hair and eye color for their ethnic backgrounds. Sometimes people do not recognize that they have albinism. A common myth is that people with albinism have red eyes.
Albinism is a rare disorder found in fewer than five people per 100,000 in the United States and Europe. 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.
Albinism is a genetically heterogeneous congenital disorder characterized by decreased or absent pigmentation in the hair, skin, and eyes. The term ‘albinism’ includes specific ocular changes that are the results of reduced amounts of melanin in the developing eye; these abnormalities in the eye and optic system are specific and necessary for the diagnosis. Aside from decreased pigment in the iris and retina, optic changes include decreased visual acuity, misrouting of the optic nerves at the chiasm, and nystagmus
Genes carry the information that makes you an individual. Genes tell your body whether to give you curly or straight hair, long or short legs, or even brown or blue eyes. You might have heard people say you have eyes like your mom, hair like your dad, a smile like your grandma, or a laugh like your grandpa. Why? Because they passed some of their genes on to you!
GS is inherited as an autosomal recessive trait. Two primary genetic variants are known. One results from mutations in the RAB27A gene located at band 15q21 that encodes the GTP-binding protein Rab27a. The other results from mutations in the MYO5A gene located at band 15q21 that encodes the unconventional myosin motor protein myosin5a. In the melanocyte, these 2 gene products, along with a third bridging protein (ie, melanophilin) form a complex that facilitates the translocation of melanosomes along microtubules in the dendrites of the melanocyte and their subsequent capture by actin filaments at the dendritic tips.
Albinism is a condition in which people have little or no melanin pigment (compound that creates colour) in their eyes, skin or hair. Because of this people with albinism look a little different from other members of their family without albinism. They have very fair skin which is prone to sunburn, their hair is white or a very light colour, and they may squint a lot as their eyes are sensitive to sunlight.
Albinism is a condition that cannot be “cured” per se, but small things can be done to improve the quality of life for those affected. Most importantly to improve vision, protect the eyes from bright lights, and avoid skin damage from sunlight. The extent and success rate of these measures depend on the type of albinism and severity of the symptoms; in particular, people with ocular albinism are likely to have normally-pigmented skin, and thus do not need to take special precautions against skin damage.
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