Albinism

Medical quality assurance by Dr. Albrecht Nonnenmacher, MD at April 29, 2016
StartDiseasesAlbinism

Albinism is a rare genetic disorder that results in a person's skin, eyes, and hair having very little or no color. People with albinism can also experience a variety of vision problems. A person with albinism is also very sensitive to sun exposure.

Contents

Definition & Facts

The type and amount of the pigment melanin produced by a person's body influences the color of their eyes, hair, and skin. The National Organization for Albinism (NOA) estimates that approximately one in 20,000 individuals in the United States are affected by some form of albinism. There are parts of the world where rates of albinism are as high as one in 3,000. The majority of individuals born with albinism have parents with normal hair and eye color. Most have blue eyes.

Symptoms & Complaints

Symptoms of albinism may be associated with a person's hair, eye color, and skin having no pigment. The hair color of a person with albinism can be a variety of colors from brown to white. Individuals with albinism who are of Asian or African heritage may have hair color that appears reddish, yellow, or brown. Eye color may range from blue to brown.

Individuals who have albinism have problems with vision. People with albinism lack pigment in the colored part of their eyes. This results in their irises not being able to effectively block light from going into their eye. This may make their eyes appear red because the light will be reflected off the back of their eyes.

It is common for people with albinism to have white hair and pinkish skin. Their skin color could be white to brown and the same as their parents. They may have freckles, moles without pigment, and large spots on their skin. Children with albinism may have frequent nosebleeds. They may also bruise easily or suffer from chronic infections.

Causes

A child who has albinism may have inherited the traits from either their mother or father. The parents may have normal pigmentation. The cause of albinism is a mutation in one of several genes that contain the instructions for creating proteins responsible for making melanin. Cells called melanocytes produce melanin. These cells are located in a person's eyes and skin. The bodies of individuals with albinism may produce very little or no melanin.

Oculocutaneous albinism results from the mutation of one of four genes. Individuals with this have white skin and hair and blue eyes at birth. X-linked ocular albinism only affects men. It is caused by a mutation of the X chromosome. These individuals have vision problems associated with albinism, but their skin, eye color, and hair are like other family members.

Chédiak-Higashi syndrome is a rare form of albinism. It is caused by a mutation in the LYST gene, which is responsible for creating a protein called lysosomal trafficking regulator. People with Chédiak-Higashi will have blond or brown hair with a silvery sheen to it. Individuals with this conditions will have a defect with their white blood cells. This increases their chances of having chronic infections.

Diagnosis & Tests

A physician will order a series of diagnostic tests before diagnosing albinism. This will include a careful examination of any changes in the pigmentation of the individual. A person's pigmentation will be compared to that of his or her family members. It will also include a careful eye examination as well as a detailed physical examination.

The most accurate method of diagnosing albinism is genetic testing. A physician may recommend a person receive an examination by an ophthalmologist. They will be able to use devices to examine a person's retina, and see any signs of the genetic disorder.

There is also a test available that is designed to determine the brain waves created when light or a reversing pattern is quickly shown to each eye. This test will be able to show if there is the misrouting of images by the optic nerve.

A physician may order a hair bulb pigmentation test. A piece of a person's hair is placed in a solution of amino acids used by the body to create melanin and tyrosine. If the hair makes no color, there is no melanin synthesis.

Treatment & Therapy

It is important for a person with albinism to get proper eye care. Their skin needs to be constantly monitored for any type of abnormalities. A person with albinism will probably need to wear prescription eyeglasses. Regular eye exams by an ophthalmologist are essential. In some rare cases, surgery is recommended to treat nystagmus, a condition that commonly affects people with albinism and causes involuntary eye movement. The surgery is performed on the extraocular muscles.

Nitisinone is a drug that has been approved by the US Food and Drug Administration (FDA) for the treatment of albinism. It will increase the levels of tyrosine in a person's body. This will lead to elevated pigmentation in their hair and eyes.

People with albinism will need to manage their sensitivity to light. A person with albinism will have an increased risk of getting sunburn and developing skin cancer. It is recommended they wear tinted glasses or sunglasses. A wide-brimmed hat should always be worn when outside in the sun. Physicians recommend they wear a protective sunscreen with a sun protection factor (SPF) of 30 or higher.

Prevention & Prophylaxis

There is no known way to prevent people from developing albinism. Some options are available for individuals who want to become parents and have albinism in their family history. Genetic testing will be able to determine if they carry the gene for this condition. They will know how great a chance they have of their children being born with albinism.

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