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

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Can a defect in the gene that produces melanin affect the color of the skin, hair, and eyes? Here it is! Read this article to understand better about this condition.

Medically reviewed by

Dr. Kaushal Bhavsar

Published At October 27, 2022
Reviewed AtMay 27, 2024

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:

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.

Frequently Asked Questions

1.

What Is the Treatment of Albinism?

Albinism generally refers to a group of inherited conditions involving decreased or no melanin production. There is no cure for albinism since it is a genetic disorder. Nevertheless, treatments are focusing on skin problems and proper eye care. It involves a multidisciplinary approach, including a primary healthcare provider, ophthalmologist, and dermatologist.

2.

How Can Albinism Affect People?

Albinism is a heritable disorder affecting melanin production, whereas melanin is the pigment that is responsible for the color of skin, hair, and eyes. Individuals with albinism have minimal or no production of melanin. A person with albinism has a lack of melanin pigment in the skin, eyes, and hair, resulting in significant color changes. This could affect their skin color and potentially their eyesight.

3.

Does Albinism Harm?

Albinism can be harmful because they possess less melanin than the normal level. Melanin is the pigment that gives color to the skin, eyes, and hair. People with albinism are highly susceptible to the adverse effects of ultraviolet (UV) radiation. So, there can be an increased risk of skin cancer and actinic damage. In addition, It can induce vision problems, but most people stay as healthy as others.

4.

Can One Lead a Normal Life With Albinism?

Albinism is a genetic or inheritable disorder that begins at birth and lasts for the rest of one's life. It can predispose individuals to permanent health problems like ultraviolet skin damage and vision problems. Some individuals might encounter teasing, unreliable questions, and bullying in their daily lives. Otherwise, Most people with this condition lead a normal life with regular growth, fertility, and development.

5.

Who Is More Likely to Get Albinism?

Albinism is an inherited condition. So, children might have an increased chance of albinism when their parents have this condition, or they carry the particular gene for albinism. The root cause of albinism is the defect in the gene that is responsible for the production and distribution of melanin. Melanin is the pigment that gives color to the eyes, skin, and hair.

6.

What Are the Two Significant Problems Faced by Albinos?

Albinism is a lifelong condition that usually does not get worse over time. The pallor appearance is the marked feature of albinism. Many individuals with this condition stay as healthy as normal people. But, albinism could be predisposed to lifelong physical health concerns that include:


- Vision impairment.


- Ultraviolet skin damage leads to skin cancer.

7.

Where Can Be Albinism More Common?

Albinism is a rare form of genetic condition where the child is born with an unusual amount of melanin pigment (the pigment that gives color to eyes, skin, and hair). So, the person appears lighter than normal. Tanzania possesses the largest number of individuals with albinism worldwide. Clinical findings say that one out of every 1400 people in Tanzania has this condition.

8.

Can Albinism Spread?

Albinism is an inherited condition described by a significantly reduced rate of melanin production in the system, resulting in a pale appearance. When both parents carry the gene for albinism, then there will be a one in four chance that the child will get albinism and a one in two chance that that child will be the carrier. Generally, the carriers will not have albinism but could pass on the gene.

9.

Is Albinism a Kind of Disability?

People with albinism are generally as healthy as other people. They follow normal growth and development as others do. However, albinism can be categorized as people with a disability due to the significant health problems associated with this condition. People with albinism have two major concerns: visual problems and skin hypersensitivity. Certain individuals with albinism could fit the legal classification of visual impairment, while others do not.

10.

Will Albinism Affect IQ?

Albinism is a genetic disorder that affects the color of the eyes, skin, and hair. This condition utterly affects the total amount of melanin in the body. They can be highly suspicious of skin cancer and sunburns. So, it does nothing with the brain and intelligence. Albinism does not cause any intellectual disability. Moreover, children with albinism generally have a normal intelligence level.

11.

Can Albinism Be Permanent?

Albinism results when there is a defect in the gene responsible for melanin production. This affects one skin color and eyesight. People with this condition manifest as pale skin and white or very blonde colored hair. Albinism is a genetic and lifelong condition. But this condition does not worsen over the years. So, albinism is a permanent condition with no cure.

12.

Which Gender Has More Prevalence for Albinism?

Albinism is a rare, genetic, and non-contagious condition that could occur worldwide with no regard for gender and ethnicity. There are many forms of albinism based on genetic defects and characteristics. Ocular albinism is more common among males. This is because ocular albinism has single X and Y chromosomes, while female genetics are typically defined by X and Y chromosomes.

13.

Can Albinism Be Identified Before Birth?

Albinism is detected at birth, where genetic testing could help with the confirmation of diagnosis. This condition cannot be prevented since it is a genetic disorder. Moreover, Albinism can also be diagnosed using fetoscopy during the 16th to 20th week of pregnancy period, shortly for consequent abortion.

14.

What Is the Appropriate Lifespan of a Person With Albinism?

Albinism is a lifelong illness, but this condition does not get worse with the years. Many individuals with albinism lead a normal life span. Nevertheless, certain forms of albinism can be potentially life-threatening. Individuals with Chediak-Higashi syndrome and Hermansky-Pudlak syndrome have a risk of a short lifespan because of the associated risks.

15.

What Is the Opposite Condition of Albinism?

Albinism is the inherited (genetic) condition where melanin pigment production is low or minimal. Here, the individual appears as pallor with blonde hair. The opposite condition of albinism is melanism. Melanism is described as excessive melanin production, causing the skin and hair to be darker than normal. Melanism can occur only in animals, while albinism can be seen in animals and humans.

16.

How Will Albinism Affect Daily Life?

Generally, people with albinism have a normal and healthy life, though it is a lifelong condition. However, this condition could result in increased sensitivity and susceptibility to ultraviolet radiation from the sun. So, one should limit the outdoors. At the same time, several people could encounter social isolation because of the stigma of albinism. It is better to employ coping strategies for leading a normal life with albinism.

Dr. Kaushal Bhavsar
Dr. Kaushal Bhavsar

Pulmonology (Asthma Doctors)

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