Albinism is the name of a group of congenital metabolic diseases that cause a disorder in the formation of melanin. Melanin is a dark pigment, a dye found in the skin and hair. It protects the body by absorbing the sun’s rays. Under the influence of UV rays, melanin is formed on the skin and the skin darkens. However, if pigment formation is impaired, the skin remains light, making it more sensitive to radiation (risk of sunburn!). You can find more information below.
What is albinism?
The term albinism typically means oculocutaneous albinism and is a group of inherited disorders in which little or no melanin pigment production is produced. The type and amount of melanin your body produces determines the color of your skin, hair, and eyes. Melanin also plays a role in the development of the optic nerves, so people with albinism have vision problems.
Symptoms of albinism often appear in a person’s skin, hair, and eye color. People with albinism are sensitive to the effects of the sun, so they have a higher risk of developing skin cancer . Although there is no cure for albinism, people affected by it can take steps to protect their skin and eyes and improve their quality of life.
Causes of albinism
Several genes provide instructions for making one of the proteins involved in melanin production. melanin; It is produced by cells called melanocytes found in your skin, hair, and eyes. Albinism is caused by a mutation in one of these genes. So, depending on which gene mutation causes the disorder, different types of albinism can occur. The mutation can result in no or significantly reduced melanin production.
Types of albinism
Types of albinism are classified according to how they are inherited and the gene affected, as follows:
- The most common type, oculocutaneous albinism (OCA), means that two copies of a mutated gene are inherited. (autosomal recessive inheritance). It is the result of a mutation in one of seven genes labeled OCA1 to OCA7. OCA; It causes a decrease in pigment in the skin, hair and eyes and causes vision problems. The amount of pigment varies with the species, and the resulting skin, hair and eye color also varies with the type.
- Ocular albinism is mainly limited to the eyes and causes vision problems. The most common form is type 1, which is inherited by a gene mutation on the X chromosome. X-linked ocular albinism can be passed on by a mother who carries a mutated X gene to her son (X-linked recessive inheritance). Ocular albinism occurs almost exclusively in men and is much less common than OCA.
- Albinism associated with rare hereditary syndromes may occur. For example, Hermansky-Pudlak syndrome includes a type of OCA, as well as bleeding and bruising problems, and lung and intestinal diseases. Chediak-Higashi syndrome includes a form of OCA, as well as immune problems related to recurrent infections, neurological abnormalities, and other serious issues.
Symptoms of albinism
The most recognizable form of albinism is very light skin and white hair compared to other individuals. Skin color (pigmentation) and hair color can range from white to brown and nearly identical to that of non-albino parents or siblings.
When exposed to the sun, these people may develop the following factors:
- Pigmented or non-pigmented moles – non-pigmented moles are usually pink in color
- Large freckle-like spots (like lentils)
The skin color of albino people never changes. For other people, melanin production can begin or increase during childhood and adolescence, causing slight changes in skin color.
Hair color can vary from very white to brown. People of African or Asian descent who are albinos; they may have blond, reddish or brown hair color. Hair colour; In early adulthood, it may stain and appear darker with age due to exposure to normal minerals in water and the environment.
Eyelashes and eyebrows are usually pale. Eye color can range from very light blue to brown and may change with age. The lack of pigment in the colored parts of the eyes (irises) makes the irises somewhat translucent. This means that irises cannot completely block light from entering the eye. For this reason, very light colored eyes may appear red in some lights.
Effects of albinism on the eyes
Visual impairment is a core feature for all types of albino people. Eye problems can include:
- Rapid and involuntary back and forth movement of the eyes (nystagmus)
- Head movements such as nodding or tilting the head to try to reduce involuntary eye movements and see better
- Inability to direct both eyes to the same point or move together (strabismus)
- Excessive closeness or farsightedness
- Sensitivity to light (photophobia)
- Abnormal curvature of the front surface of the eye or the lens inside the eye (astigmatism), resulting in blurred vision
- Abnormal development of the retina results in decreased vision
- Nerve signals from the retina to the brain that do not follow normal nerve pathways (misdirection of the optic nerve)
- Depth perception misconceptions
- Legal blindness (less than 20/200 vision) or complete blindness
When should you see a doctor?
At your child’s birth, if the doctor notices a lack of pigment in the hair or skin that affects the eyelashes and eyebrows, he or she will likely order an eye exam and closely monitor changes in your child’s pigmentation and development.
If you observe signs of albinism in your baby, you should talk to your doctor.
You should also contact your doctor if your child with albino has frequent nosebleeds, easy bruising or chronic infections. These signs may indicate the presence of Hermansky-Pudlak syndrome or Chediak-Higashi syndrome , which are rare but serious disorders that include albinism .
Diagnosis of albinism
The diagnosis of albinism is based on:
- Physical examination, which includes checking for skin and hair pigmentation
- a comprehensive eye exam
- Comparison of the pigmentation (skin color) of the person concerned with that of other family members
- Review of medical history, including bleeding that doesn’t stop, excessive bruising, or unexpected infections
After a diagnosis of albinism, an ophthalmologist who specializes in vision and eye disorders should perform an eye examination of your child. The doctor also uses a device to visually examine the retina and determine for signs of abnormal development. Genetic consultation can help determine the type of albinism and heredity.
Since albinism is a genetic disease , it cannot be cured. Current treatment focuses on practicing appropriate eye care and monitoring the skin for signs of abnormalities. In care practice, you should have your primary care physician and doctors specializing in eye care (ophthalmologist), skin care (dermatologist), and genetics.
Treatment usually includes:
- Eye care: This phase includes getting an annual eye exam by an ophthalmologist and possibly wearing prescription lenses. Although surgery is rarely part of treatment for albinism-related eye problems, your ophthalmologist may recommend surgery on the optic muscles to minimize nystagmus. Surgery to correct strabismus may make the condition less noticeable.
- Skin care and skin cancer prevention: This phase also includes getting an annual skin assessment to screen for skin cancer or lesions that may lead to cancer. An aggressive form of skin cancer called melanoma may present as pink skin lesions.
People with Hermansky-Pudlak or Chediak-Higashi syndrome often require regular special care to meet medical needs and prevent complications.
Tips to improve lifestyle
You can help the person involved learn self-care practices that should continue into adulthood, such as:
- Using aids such as hand-held magnifiers, monocular or eyeglass-mounted magnifiers, and a tablet synchronized with a smart board (interactive electronic board with a touchscreen) in the classroom during the training phase
- Always using sunscreen with a sun protection factor (SPF) of 30 or greater that protects against both UVA and UVB light
- Avoiding going outside for long periods or in the middle of the day and strictly avoiding prolonged sun exposure
- Wearing protective clothing, including colored clothing such as long sleeves, collared shirts, long pants, and socks
- wearing UV-blocking sunglasses or transitional lenses (photochromic lenses)
Complications of albinism
Complications of albinism can include social and emotional difficulties as well as skin and eye.
Problems with vision can make learning difficult. In addition, it can affect a person’s work life and ability to drive.
Skin related complications
Albino people have very sensitive skin to light and sun exposure. Sunburn is one of the most serious complications associated with albinism; because it can increase the risk of skin cancer and thickening of the skin related to sun damage.
Social and emotional difficulties
Albino people can experience discrimination. The negative reactions of non-albino people often have a bad effect on people with the condition. Albino people may have problems being bullied, teased, or questioned about their appearance, glasses, or visual aid devices. They often look very different from members of their own family or ethnic group; therefore, they may feel or be perceived as strangers. These experiences can cause social isolation, poor self-esteem, and stress.
Can albinism be prevented?
If a family member is albino, a genetic counselor can help you understand the type and chances of having a future child who may be albino.