ALBINISM A Lifetime Suffer?

INTRODUCTION Have you ever heard about albinism? Albinism is a defect of melanin production that results in little or no color (pigment). The word albinism itself refers to a group of inherited conditions. It is an inherited condition present at birth. It also sometimes referred to hypopigmentation.

DESCRIPTION It is characterized by a lack of melanin, the pigment that normally gives color to the skin, hair, and eyes. Albinism may affects people from all races in the world. They have inherited altered genes that do not make the usual amounts of a pigment called melanin. However, this is a rare phenomenon. In USA, only one person in 17, 000 has some type of albinism. People usually do not recognize that they have albinism. TYPE OF ALBINISM Many types of albinism exist, all of which involve lack of pigment in varying degrees. Oculocutaneous albinism is a common type of albinism. It will affects the eyes, hair, and skin. The hair and skin will remain completely white throughout life. Everyone with oculocutaneous albinism will experience abnormal flickering movements of eyes which is known as nystagmus and also sensitive to bright light. There may be other eye problems including poor vision and crossed or "lazy" eyes - strabismus .

Other common type of albinism is an ocular albinism. This condition happened when it only affects eyes. The eyes will be lack of colour but hair and skin are normal. The ocular albinism cause more eyes problems than others. CAUSES genetics aspects Albinism is an inherited problem, which is a autosomal recessive disease. It is mainly caused by an alteration in one or more of the genes that are responsible for directing the eyes and skin to produce or distribute melanin. Melanin is a photoprotective pigment that absorbs ultraviolet (UV) light coming from the sun. The skin will not damaged in the presence of the melanin. Sun exposure normally produces a tan, which is an increase in melanin pigment in the skin. Many people with albinism do not have melanin pigment in their skin, do not tan with exposure to the sun, and as a result develop sunburn . as you being mentioned earlier , it is a autosomal recessive disease. What is meant by that? Autusomal recessive disease means that a person must have two copies of the defective gene to show the symptoms of the disease. The child therefore inherits one defective gene responsible for making melanin from each parents. Because the task of making melanin is complex, there are many different types of albinism, involving a number of different genes. It is also possible to inherit one normal gene and one albinism gene. In this case, the one normal gene provides enough information to make some pigment, and the child has normal skin and eye color. The child has one gene for albinism. About one in 70 people are albinism carriers, with one defective gene but no symptoms; they have a 50 percent chance of passing the albinism gene to their child. However, if both parents are carriers with one defective gene each, they have a one in four chance of passing on both copies of the defective gene to the child, who will have albinism. There is also a type of ocular albinism that is carried on the X chromosome and occurs almost exclusively in males because they have only one X chromosome and, therefore, no other gene for the trait to override the defective one.

BIOCHEMICAL ASPECTS Albinism occur when there is an absence of the enzyme tyrosinase, which prevents the synthesis of melanin pigment by pigment-forming cells. These individuals have a very white skin, fine white hair, pink or light blue irises of the eyes, and a variety of other eye disturbances. Various types of localized albinism are characterized by the absence of pigment in specific parts of the body. There is no treatment for albinism.

SYMPTOMS clinical Signs of albinism are usually appear in the skin, hair and eye color. There are also symptoms showing vision impairments. Although the most recognizable form of albinism results in milky white skin, skin pigmentation can range from white to brown, and may be nearly the same as that of parents or siblings without albinism. For some people with albinism, skin pigmentation never changes. For others, melanin production may begin or increase during childhood and adolescence, resulting in slight changes in pigmentation. With exposure to the sun, some people may develop freckles,

moles, with or without pigment, large freckle-like spots (lentigines) and also the ability to tan Hair Hair color can range from very white to brown. Eye color can range from very light blue to brown and may change with age. The lack of pigment in the colored part of the eyes (irises) makes them somewhat translucent. This means that the irises can't completely block light from entering the eye. Because of this translucence, very light-colored eyes may appear red in some lighting. This occurs because you're seeing light reflected off the back of the eye and passing back out through the iris again similar to red eye that occurs in a flash photograph. Signs and symptoms of albinism related to eye function include rapid, involuntary back-and-forth movement of the eyes (nystagmus). There will be also an inability of both eyes to stay directed at the same point or to move in unison (strabismus) or extreme nearsightedness or farsightedness. Another symptom is sensitivity to light (photophobia) and astigmatism. DIAGNOSIS Genetic testing offers the most accurate way to diagnose albinism. This testing is proven if the person have a family history of albinism. It is also useful for certain groups of people who are known to get the disease. Doctor may also diagnose the condition based on the appearance of the skin, hair, and eyes. An ophthalmologist should perform a electroretinogram test, which can reveal vision problems related to albinism. A visual evoked potentials test can be very useful when the diagnosis is uncertain.

TREATMENT The goal of treatment is to relieve symptoms. Treatment depends on the severity of the disorder.

Treatment involves protecting the skin and eyes from the sun, reducing sunburn risk by avoiding the sun, using sunscreen, and covering up completely with clothing when exposed to the sun. We may use sunscreen that have a high sun protection factor (SPF), sunglasses (UV protected) may relieve light sensitivity. Glasses are often prescribed to correct vision problems and eye position. Eye muscle surgery is sometimes recommended to correct abnormal eye movements (nystagmus).

UNIVERSITI PENDIDIKAN SULTAN IDRIS SEMESTER 2 SESI 2011/2012

PRINCIPLES IN BIOCHEMISTRY SBK 3013

ASSIGNMENT INDIVIDUAL ARTICLE

NAME : NOOR HAJAH SANITA BT MOHD SATAR MATRIC NUM : D20091035086 TITLE : ALBINISM