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Albinism ? Symptoms, Causes and Treatment

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Albinism is hereditary it is not an infectious disease and cannot be transmitted through contact, blood transfusions, or other vectors. The principal gene which results in albinism prevents the body from making the usual amounts of the pigment melanin. Most forms of albinism are the result of the biological inheritance of genetically recessive alleles (genes) passed from both parents of an individual, though some rare forms are inherited from only one parent. There are other genetic mutations which are proven to be associated with albinism. All alterations, however, lead to changes in melanin production in the body.

Symptoms

There are several ethnic groups in Central and South American who carry this trait. A small blood sample is obtained from the affected individual and the parents and molecular genetic analysis of the DNA code is performed to identify the affected genes. People with albinism are born with little or no pigmentation in their eyes, skin and hair (oculocutaneous albinism) or sometimes in the eyes alone (ocular albinism).

Apart from their physical appearance, people with the condition can experience a number of associated problems, depending on which genetic type they have. Problems with vision and from skin burning in sunlight are particularly common.
The disorder may also be diagnosed based on the appearance of the skin, hair, and eyes. It is very helpful for an ophthalmologist to perform a complete examination of anyone with albinism. An electroretinogram test, to determine brain waves produced by light shined in the eye, can reveal “abnormal wiring” of the visual system in ocular forms of albinism.

Causes

Albinism is an inherited problem caused by a flaw in one or more of the genes that are responsible for directing the eyes and skin to make melanin (pigment). As a result, little or no pigment is made, and the child’s skin, eyes and hair may be colorless.

The most severe form of albinism is called oculocutaneous albinism. Persons with this type of albinism have white or pink hair, skin, and iris color, as well as vision problems.

Another type of albinism, called ocular albinism type 1 (OA1), affects only the eyes. The person’s skin and eye colors are usually in the normal range. However, an eye exam will show that there is no coloring in the back of the eye (retina).

In most types of albinism, a recessive trait, the child inherits flawed genes for making melanin from both parents. Because the task of making melanin is complex, there are many different types of albinism, involving a number of different genes.

Treatment

There is no treatment or cure for albinism. Since individuals with albinism have little or no melanin in their skin, they need to use a broad-spectrum sunscreen and wear adequate clothing when outside to prevent ultraviolet-induced damage to the skin. The use of sunglasses will reduce the symptoms of light sensitivity as well as protecting the eyes. An ophthalmologist can treat other eye or vision symptoms. Individuals with albinism should see a dermatologist regularly to be screened for skin cancer. Albinism does not alter life expectancy or have other serious health effects.

Diagnosis of all types of OCA is obvious from examination of the skin, but detection of iris translucency, reduced retinal pigmentation, foveal hypoplasia, reduced visual acuity, and ocular movement disorders (strabismus and nystagmus) is necessary. Some surgical interventions may improve ocular movement disorders.

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