Albinism-Emily+V

Albinism **Description: ** Albinism is an inherited condition that is characterized by a lack of melanin, the pigment that normally gives color to the skin, hair, and eyes. Many types of albinism exist, all of which involve lack of pigment. The condition, which is found in all races, may be eye problems and may ultimately lead to skin cancer. People with Albinism could have white skin, white hair, or unusual eye colors.

**Inheritance: ** Albinism is an inherited problem caused by an alteration in one or more of the genes that are responsible for directing the eyes or skin to produce or distribute melanin, which is a photo protective pigment that absorbs Ultraviolet light coming from the sun so that skin is not damaged. Albinism is an autosomal recessive disease, which means that a person must have two copies of the detective gene to exhibit symptoms of the disease.

**Symptoms: ** Sun exposure usually produces a ta n, which is an increase in melanin pigment in the skin. Many people with Albinism do not have melanin pigment in their skin, and as a result develop sunburn. Over time, people with Albinism may develop skin cancers if they do not protect their skin. Albinism mainly affects the eyes, skin, and hair. Some symptoms of the hair are, bangs turning white and complete absence of pigment in the hair that results in white hair. Some symptoms to the eyes are decreased sharpness in vision, functional blindness, lazy eyes, sensitivity to lights or glare, wandering eyes, and distortion of viewed image. Some symptoms to the skin are patchy or absence of melanin leaving areas pale, no pigmentation causing in white skin, increased chance in skin cancer, and highly sensitive to sunburn. Melanin is important in the eyes and brain, but it is not known what role melanin plays in those areas. Parts of the retina do not develop correctly if melanin pigment is not present during development. Also nerve connections between the retina and brain are altered if melanin is not present in the retina.

**Daily Life: ** People with Albinism still face teasing, stares, well-meaning but ignorant questions, feelings of otherness and isolation, and myths abut the condition. In the summer, an Albino would have to wear sunblock and opaque clothing just to be outside.

**Diagnosis: ** Albinism is present at birth, and is usually diagnosed based on the infant’s appearance. If necessary, genetic testing can be done to confirm a diagnosis, but that is not routinely done.

**Treatment: ** There is no treatment that can replace the lack of melanin that causes the symptoms of Albinism. Doctors can only treat, but not cure, the eye problems that often accompany the lack of skin color. Glasses or corrective lenses and low vision aids can improve vision but usually can not improve vision to 20/20.

**Research: ** Albinism is not preventable. When you get two Albinism genes, you can not do anything to get rid of those genes. One way to relieve symptoms is to protect your skin and eyes from the sun.

**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Additional Facts: ** <span style="color: black; font-family: 'Times','serif'; font-size: 12pt; line-height: 115%;">Albinism is a rare disorder found in fewer than 5 people per 100,000 in the United States and Europe. Although Albinism can affect all races, 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. Most parents of children with Albinism have normal hair and eye color for their ethnic background and do not have a family history of Albinism.

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