Albinism
Albinism or albino is a congenital disorder that causes sufferers to experience a lack of melanin or even no pigment at all. Therefore, the skin, hair, and eye color of sufferers of this condition are pale and tend to be white.
Although this condition cannot be cured, sufferers can still live a normal life and carry out daily activities like normal people in general.
Symptoms of Albinism
There are several symptoms of albinism that occur with variations in sufferers. Symptoms of this condition generally affect the color of the skin, hair, eyes, and vision.
1. Symptoms on the skin and hair
The most obvious symptoms of albinism are white hair and very pale and light skin. However, in some cases, hair color can range from white to brown. In addition, skin coloring can also be in the form of pigmentation, which is when the color is lighter than it should be in certain areas.
People of African descent who have this condition may have light brown or reddish-brown skin and have freckles. For some, their skin color can be nearly the same as a parent or sibling without albinism.
If people with albinism are exposed to sunlight, they may experience:
- Spots.
- Moles, colorless or pink.
- Large freckles or solar lentigines.
- Sunburned and unable to sunbathe.
For some people with this condition, their skin color will never change. For others, melanin production may begin or increase during childhood and adolescence, causing slight changes in color.
2. Symptoms in hair
An albino’s hair color can range from very white to brown. However, albinism of African or Asian descent may have yellow, red, or brown hair.
Hair color can darken in early adulthood. Hair color changes can also occur due to contact with minerals in water and the environment, making hair appear darker as you age.
3. Eye color symptoms
People with albinism usually have pale eyelashes and eyebrows. Eye color ranges from light blue to brown, and can change with age.
In people with albinism, the colored part of the eye (the iris) usually lacks pigment. This allows light to shine through the iris and makes the eyes very sensitive to bright light. As a result, very light-colored eyes may appear red in certain lighting.
4. Symptoms in vision
Visual impairment is the main symptom of all types of albinism. Eye problems that may occur may include:
- Rapid, uncontrolled back-and-forth movements of the eyes (nystagmus).
- Unusual head position or posture, such as tilting the head to try to reduce eye movement and see better.
- Eyes that cannot look in the same direction at the same time or appear crossed (strabismus).
- Having trouble seeing objects close up or objects far away, called nearsightedness or farsightedness.
- Having excessive sensitivity to light (photophobia).
- There is a difference in the curvature of the front surface of the eye or the lens inside the eye (astigmatism), which causes blurred vision.
- There is a difference in the development of a thin layer of tissue on the inside of the back wall of the eye (retina). This difference results in reduced vision.
- Nerve signals from the retina to the brain that do not follow the usual nerve pathways in the eye (optic nerve misrouting).
- Having poor depth perception, meaning not being able to see things in three dimensions and judge how far away an object is.
Risk Factors for Albinism
Albinism is a condition that someone has since birth. A child is at high risk of being born with this condition if they have parents with the same condition. In addition, it can also occur if the parents carry the gene mutation that causes albinism.
To date, research has not found any possible activities or diseases that could increase the risk factors for albinism.
Causes of Albinism
The cause of this condition is a change in one of the genes. Some genes provide instructions for making one of several proteins involved in melanin production.
Then, cells called melanocytes will produce melanin which is present in the skin , hair, and eyes. Genetic changes can cause melanin to be absent altogether or to decrease in quantity.
Types of Albinism
There are different types of albinism that can occur based on the gene changes that cause the disorder. The types will differ based on how they run in families and the genes that are affected.
1. Oculocutaneous albinism (OCA)
This type is the most common. OCA albinism involves two copies of the altered gene, one from each parent. This condition is also called autosomal recessive inheritance.
Oculocutaneous albinism is the result of changes in one of eight genes that range in label from OCA-1 to OCA-8. OCA causes decreased pigmentation in the skin, hair, and eyes, as well as vision. The amount of pigment varies by type. The skin, hair, and eye color that results from OCA also varies by type.
2. Ocular albinism
Ocular albinism is limited to the eyes, causing vision problems. The most common form of this type is type 1. This type is inherited due to a change in the gene on the X chromosome from a mother who carries one X gene.
This gene has then changed when it is passed down to the child. This is also called X-linked recessive inheritance. However, ocular albinism usually occurs only in males and is less common than OCA.
3. Albinism related to hereditary syndrome
Examples of this type of albinism are Hermansky-Pudlak syndrome which is a form of OCA, as well as bleeding and bruising problems and lung and intestinal diseases. Chediak-Higashi syndrome is also a form of OCA, as well as immune problems and recurrent infections, brain and nerve problems, bleeding disorders, and other serious problems.
4. Griscelli syndrome
Griscelli syndrome is a very rare genetic disorder. It occurs due to a defect in one of three genes. Only about 150 cases of the syndrome were recorded worldwide between 1978–2018.
This condition occurs with albinism, but may not affect the entire body. In addition, Griscelli syndrome also occurs due to immune problems and neurological problems. Griscelli syndrome usually causes death in the first decade of life.
Diagnosis of Albinism
Albinism occurs at birth. Generally, diagnosing this condition is not difficult and only requires an examination by a doctor. This examination can be done by a doctor by:
- Physical examination includes examination of skin and hair pigmentation.
- Comprehensive eye examination.
- Comparing the pigmentation of a child with albinism with other family members.
- Review your child’s medical history, including any bleeding that won’t stop, serious bruising, or unexpected infections.
Albinism Treatment
Although it cannot be cured, treatment for albinism focuses on maximizing the ability to see and protecting the skin by providing proper care.
- Use sunglasses to protect the eyes from direct exposure to ultraviolet rays.
- Wear clothing that covers the skin and use sunscreen to protect the skin from sun exposure.
- Use of special glasses if you experience eye and vision problems.
- Do skin care and skin cancer prevention. For example, by having a skin exam at least once a year to screen for skin cancer or spots that can lead to cancer.
Prevention of Albinism
Albinism is not a disease that someone can prevent in some way because it is a hereditary condition. If you want to know about the risk of this condition occurring in children, you can do a genetic counselor to find out what type of albinism might occur.
Complications of Albinism
The lack of melanin produced by the body causes the skin, hair and eyes to become pale.
The following are complications that may occur in people with albinism:
- Visual impairment
However, people with albinism can learn to use their vision over time. Some people with albinism may be able to overcome problems with astigmatism, nearsightedness, and farsightedness with glasses or contact lenses.
- Skin cancer
Lack of melanin in the body can cause skin cancer in people with albinism. Check regularly if you experience symptoms of skin cancer. Also, minimize exposure to the sun for a long time.
- Problems in the social environment
People with this condition are at high risk of social isolation, due to the social stigma behind the condition.
When to See a Doctor?
If you experience signs and symptoms of albinism, you can talk further with a doctor to find out the cause and proper treatment. In addition, you can consult a doctor for treatment if you experience complications or the impact interferes with daily activities.