Albinism Definition, Reason, Symptom, Treatment, Prevention

Albinism Definition

The term albinism is generally used to refer to oculocutaneous albinism. This is a group of inherited disorders in which there is little or no production of the pigment melanin.

The type and amount of melanin produced by the body will determine the color of the skin, hair, and eyes. Melanin also plays a role in the development of the optic nerve, and therefore individuals with albinism may experience impaired vision.

Signs of albinism can generally be seen from the skin, hair, and eye color of the individual. However, sometimes only slight differences are visible. People with albinism also have a higher sensitivity to the effects of sunlight, which makes them more prone to developing skin cancer.

Although there is no treatment to cure albinism, people with this disorder can take various steps to protect their skin and eyes and maximize vision.

Albinism Reason

Several genes provide instructions for producing one of several proteins involved in melanin production. Melanin is produced by cells called melanocytes, which are found in the skin, hair, and eyes.

Albinism is caused by a mutation in one of these genes. There are several types of albinism that can occur, which mainly depend on the type of gene mutation that causes it. These mutations can cause no melanin production at all or a significant decrease in melanin production.

Types of albinism are classified according to how the condition is inherited and the genes involved. Some of the types that can occur are:

• Oculocutaneous albinism, which is the most common type, can occur in people who have two mutated genes, one from each parent (autosomal recessive inheritance). This condition is the result of mutations in one of seven genes, named OCA1 through OCA7.

The OCA gene causes decreased pigmentation of the skin, hair, and eyes, as well as impaired vision. The amount of pigment varies according to the type of gene that is mutated, as well as the color of the skin, hair, and eyes.

• Ocular albinism, which is limited to the eye and causes visual impairment. The most frequently observed type is type 1, which is inherited by a gene mutation on the X chromosome.

Ocular albinism associated with the X chromosome can be passed from a mother who has one X chromosome mutated to her son. Ocular albinism occurs almost always in males and is less common than OCA.

• Albinism is associated with hereditary syndromes, such as Hermansky-Pudlak syndrome which includes one type of OCA. This condition is also characterized by bleeding disorders and bruising as well as diseases of the lungs and gastrointestinal tract.

Another condition is Chediak-Higashi syndrome, which includes a type of OCA as well as an immune disorder with recurrent infections, neurological abnormalities, and other health conditions.

Albinism Symptoms

Signs and symptoms of albinism can involve skin, hair, and eye color, as well as vision.

One of the most recognizable signs of albinism is white hair and skin that is much lighter than its siblings. Skin coloring (pigmentation) and hair color can vary from white to brown, and can also sometimes be almost the same as their parents or relatives who do not suffer from albinism.

With sun exposure, some people with this condition may experience:

• Spots on the face
• Moles, with or without pigment (moles without pigment are generally pink)
• Large freckles on the face (lentigines)
• Sunburned skin

In some people with albinism, skin pigmentation never changes. In others, melanin production can begin or increase in childhood or adolescence, resulting in slight changes in pigmentation.

Hair color can vary from very white to brown. People with African or Asian backgrounds with albinism can have yellow, reddish, or brown hair.

Hair color may also darken as you enter young adulthood, or experience discoloration due to exposure to minerals that are normally found in water and the environment. In addition, hair color can also appear darker with age.

Eyelashes and eyebrows are often pale in color. Eye color can vary from very light blue to brown, and can change with age.

The lack of pigment in the colored part of the eye (iris) makes the iris appear translucent. This means that the iris cannot completely block light from entering the eye. As a result, very light-colored eyes can appear red in certain lighting.

Impaired vision is one of the key signs of all types of albinism. Disorders and problems in the eye that occur can include:

• Rapid, involuntary eye movements in a certain direction and back (nystagmus)
• Head movements, such as nodding or tilting the head, to try to reduce involuntary eye movements and see more clearly
• Difficulty with both eyes aiming at one point or moving at the same time (strabismus)
• Extreme nearsightedness or farsightedness
• Sensitivity to light (photophobia)
• Abnormal curvature of the front layer of the eye or lens (astigmatism), which can cause blurry vision
• Abnormal development of the retina leading to decreased vision
• Nerve signals from the retina to the brain that don’t follow the proper neural pathways
• Poor depth perception
• Legally blind, or complete blindness

Albinism Diagnosis

The diagnosis of albinism can be made based on:

• Direct physical examination which includes an examination of skin and hair pigmentation
• A thorough eye examination
• Comparing the patient’s skin pigmentation with other family members
• Perform an assessment of the patient’s medical history, including a history of bleeding that is difficult to stop, excessive bruising on the body, or a history of repeated infections

An eye examination may also be performed to evaluate for nystagmus, strabismus, and photophobia. Doctors can also use tools to evaluate the condition of the retina and determine any signs of abnormal development.

Albinism Handling

Management of albinism is aimed at getting good eye care and skin monitoring for signs of abnormalities. The treatment team involved may include primary care physicians, ophthalmologists, dermatologists, and geneticists.

Treatment for albinism generally includes:

• Eye care. This includes regular eye exams and the use of eyeglasses with corrective lenses.

Although surgery is rarely part of the treatment for eye disorders caused by albinism, an ophthalmologist may recommend surgery for the eye muscles if deemed necessary.

• Skincare and skin cancer prevention. This includes regular skin checks to evaluate for lesions that could suggest skin cancer.

One aggressive type of skin cancer known as melanoma can appear as pink skin lesions.

People with Hermansky-Pudlak syndrome or Chediak-Higashi syndrome may need regular special care to address their medical needs and prevent complications.

Albinism Prevention

If a family member has albinism, a genetic counselor can help the family to understand more about the type of albinism that occurs and the possibility of having children with albinism in the future. A genetic counselor can also explain further about the available tests. According to JJ Medicine Albinism | Genetics, Different Types, and What You Need to Know video below.