Albinism - Classification, Causes, Symptoms, Diagnosis, and Treatment

Introduction:

Melanin is a type of pigment that gives color to the hair, eyes, skin, and nails in both humans and in animals. There are specialized cells in the skin called melanocytes, which help in the production of melanin in the body. Each one of us has the same number of melanocytes, but melanin production varies. Some people produce more melanin than others. The amount of melanin production depends on the genes. For people who produce little melanin, the skin, hair, and the iris of the eye can be lighter in color, and for those, there is more melanin production, the skin can be darker.

What Is Albinism?

Albinism is typically an inherited disorder that is characterized by minimal or no production of the pigment melanin. This condition is also known as achromasia. Melanin also protects the skin from harmful UV (ultraviolet) rays, so people with albinism are more sensitive to the sun and are more likely to develop skin cancer as early as teenage ages. Albinism is associated with vision problems because melanin also has a role in the development of optic nerves. In a study, it was estimated that one in 70 people carry the gene mutation that is associated with albinism.

How Is Albinism Classified?

Albinism is classified into two types which includes:

• Ocular albinism.

• Oculocutaneous albinism.

Ocular Albinism:

The type of albinism that primarily affects the eye.

Oculocutaneous Albinism (OCA):

Oculocutaneous albinism is a form of albinism that affects the skin, hair, and eyes. It is further subdivided into the following types:

• OCA Type 1:

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People with this type of albinism most likely develop milky skin, white hair, and blue eyes. Over age, certain people's skin and hair can darken.

• OCA Type 2:

This type of albinism is less severe than type 1.

• OCA Type 3:

People with this type of albinism have milder vision problems than other types of albinism.

• OCA Type 4:

Type 4 is similar to type 2 and is commonly reported among the East Asian populations.

The other types of albinism include:

• X-linked Ocular Albinism:

When there is a genetic mutation in the X chromosome, this type of albinism occurs, and it most commonly affects males. This albinism type causes vision problems, and hair and skin are mostly normal.

• Hermansky-Pudlak Syndrome:

Hermansky-Pudlak syndrome is a less commonly reported form of albinism, and the symptoms are similar to those of oculocutaneous albinism. In addition to it, bowel, lung, kidney disease, or bleeding disorders are more commonly reported.

• Chediak-Higashi Syndrome:

Chediak-Higashi syndrome is a rarely seen form of albinism caused due to mutations in the CHS1 gene. The symptoms resemble those of oculocutaneous albinism. In this syndrome, the person may have defects in white blood cells (WBC), making the person more likely to develop infections.

What Are the Common Causes of Albinism?

Albinism is typically an inherited condition that has been present since birth. The chances of a child developing albinism are high when both parents have albinism or if both parents carry the gene that causes albinism. The primary cause of albinism is a defect in the gene that contributes to the production of melanin. This defect in the gene can cause either reduced melanin production or the absence of melanin production.

For many types of albinism, both parents must carry the gene for the child to develop the disorder, whereas in most cases, people develop albinism even when the parents are just carriers of the gene and do not have any symptoms.

What Are the Symptoms of Albinism?

The signs and symptoms of albinism involve the skin, hair, and eyes.

Skin and Hair:

The hallmark sign of albinism is light-colored skin and white skin. The skin and hair color ranges from white to brown. They can also have patches of the skin that have an absence of color.

Symptoms of albinism involving the eyes include:

• The eyebrows and the eyelashes are often pale, and the eye color ranges from light blue to brown. The absence of the pigment in the colored part of the eyes gives the iris a translucent color.

• Impairment of the vision is one key feature of albinism, as the most dramatic effects of albinism are in the eyes.

• Rapid involuntary (back and forth) eye movement (nystagmus).

• Head movements.

• Not being able to keep the eyes directed at the same time or to move in unison (strabismus).

• Being sensitive to light (photophobia).

• Nearsightedness or farsightedness.

• Astigmatism (abnormal inflexibility of the front surface of the eyes or lens) causes blurred vision.

• Optic nerve misrouting (nerve signals that are transmitted from the retina to the brain do not follow the usual pathways).

• Complete blindness.

How Is Albinism Diagnosed?

Mostly albinism is diagnosed based on the appearance of the skin, hair, and eyes. For diagnosing eye problems related to albinism, a test known as an electroretinogram is performed. Genetic testing is the most accurate way to determine albinism and is most useful for people having a family history of albinism.

Can Albinism Be Treated?

The major aim of treatment is to alleviate the symptoms. And the treatment depends on the severity of the disorder. The treatment involves protecting the skin and eyes from exposure to the sun. The treatment includes:

• Regularly use sunscreen with a high SPF (sun protection factor) and try covering up entirely with clothing when exposed to the sun.

• Wear sunglasses to relieve light sensitivity.

• And glasses are prescribed to correct vision problems and other problems related to the eye. Sometimes eye muscle surgery is suggested to correct abnormal eye movements.

What Are the Complications of Albinism?

There are a few severe complications of albinism, which include:

• Decreased vision eventually results in blindness.

• Skin cancer.

Conclusion:

Albinism is an inherited condition, so there is no specific way to prevent the condition from occurring, and most types of albinism do not affect a person's life expectancy. However, people with a family history of albinism should consider getting genetic counseling. And since patients with albinism are susceptible to sun damage, they may have to use lifelong precautions for sun protection.