Albinism or albino is a condition caused by a lack or absence of melanin in the body. Albinism sufferers can knowni from hair and skin colorhis that looks white or pale.
Melanin is a pigment produced by the body to determine the color of the skin, hair, and iris (rainbow membrane) of the eyes. Melanin also plays a role in the development of the optic nerve which affects vision function. Lack of melanin can cause discoloration of hair, skin, and irises, as well as impair vision.
Albinism is relatively rare. Based on research, albinism occurs in 1 in 20,000 births. In Indonesia, albinism is better known as albinism.
Causes of Albinism
Albinism or albinism is caused by changes or mutations in genes that affect melanin production. Melanin is a pigment produced by melanocyte cells found in the eyes, skin and hair.
Mutations in these genes cause melanin production to be drastically reduced or not produced at all. This is what causes the appearance of symptoms of albinism.
Based on the type of gene that is mutated, albinism is divided into several types, namely:
Oculocutaneous albinism
Oculocutaneous albinism is the most common albinism. This type of albinism results from mutations in one of 7 genes (OCA1 to OCA7). Mutations in this gene cause a decrease in the production of melanin in the hair, skin, and eyes, as well as decreased vision function.
Oculocutaneous albinism occurs when each parent passes one copy of the mutated gene to their child. This pattern is called autosomal recessive.
Ocular albinism
Ocular albinism occurs due to mutations in a gene on the X chromosome. Ocular albinism can occur if a person has a mother who suffers from a mutation in that gene. This pattern of disease decline is called X-linked recessive.
Almost all cases of ocular albinism occur in men. However, this type is less common than oculocutaneous albinism.
Albinism-associated syndrome
This type of albinism is associated with hereditary diseases. Some of the diseases associated with this type of albinism are:
- Chediak-Higashi syndrome, which is a syndrome caused by mutations in the LYST gene. This syndrome causes abnormalities in white blood cells, increasing the risk of infection.
- Hermansky-Pudlak syndrome, which is a syndrome that occurs due to mutations in 1 of the 8 genes that make up the protein responsible for the formation of LROs (LROs).lysosome-related organelles). LROs were also identified in melanocytes, platelets, and lung cells.
- Abnormalities in LROs will cause the appearance of oculocutaneous albinism. Besides being able to cause albinism, this syndrome can also cause abnormalities in the lungs, intestines, and bleeding disorders.
Albinism risk factors
Albino is a condition suffered from birth. A baby is more at risk of being born with albinism if it has a parent who also has albinism or if the parent carries a gene mutation that causes albinism.
Symptoms of Albinism
The lack of melanin in albinism affects skin color, hair, eyes, and vision function. Symptoms and complaints that appear depend on the amount of melanin produced by the body. Generally, the symptoms of albinism will cause hypopigmentation of the skin. However, in some cases, the color of the skin and hair of people with albinism is almost the same as that of their normal parents or siblings.
Albinism can be recognized by the following signs and symptoms:
Marks on hair, skin and iris color
The most striking sign of people with albinism is the color of their hair, eyebrows and eyelashes, which can be brown, yellow, or very white. Likewise, the color of the skin, can be brown or pale white. The color of the irises of people with albinism can also be brown, bright blue, or reddish.
The color abnormalities of the organs above are the most common signs in people with albinism. In some cases, the color of hair, skin, and irises may darken with age. These changes can be caused by increased melanin production or exposure to certain minerals in the environment.
Signs and symptoms in the eye
All types of albinism cause eye problems. Some of the signs and symptoms are:
- Decreased visual function due to abnormalities in retinal development
- Uncontrolled eye movements or nystagmus
- Eyes sensitive to light or photophobia
- Crossed eyes or strabismus
- Nearsightedness or hypermetropia
- Cylindrical eyes or astigmatism
- Nearsightedness or myopia
- Blindness
This visual impairment can make children with albinism look clumsy and confused when crawling or picking up objects. However, usually his adaptability will improve with age.
When to go to the doctor
Check with the doctor if your child has albinism, has frequent nosebleeds, bruises easily, or has an infection. This condition can indicate a more dangerous type of albinism.
If you have been diagnosed with albinism, check with your doctor according to the prescribed schedule. Prompt examination can prevent worsening of the condition and complications.
Albinism Diagnosis
Doctors can diagnose albinism by looking for abnormalities in the color of the patient's hair, skin, and irises. The doctor will also perform electroretinography, which is an examination to detect eye disorders associated with albinism.
Although albinism is usually diagnosed by a physical examination, doctors can perform genetic tests to confirm the diagnosis, especially if there is a history of albinism in the patient's family.
Albinism Treatment
Albinism is caused by a genetic disorder, so this disease cannot be cured. However, a number of treatment steps below can relieve symptoms and prevent worsening:
- Glasses or contact lensesTo improve vision function and reduce sensitivity to light, patients can wear glasses or contact lenses. Doctors can also perform surgery to treat crossed eyes and nystagmus.
- SunblockTo prevent skin damage, patients will be given a sunscreen with an SPF of 30 or more for regular use.
- Closed clothesPatients are also advised to wear sunglasses and wear closed clothing to protect the eyes and skin from exposure to ultraviolet rays, especially if they want to do outdoor activities.
Complications of Albinism
Albinism can affect the quality of life of sufferers, both physically and mentally. If left untreated, people with albinism can experience the following conditions:
- Difficulty or inability to read, work, or drive due to eye problems
- Burns can develop into skin cancer, due to skin sensitivity to sunlight
- Stress or low self-esteem, which can be caused by the sufferer feeling inferior because he sees himself as different or as a result of bullying from people around him
Albinism Prevention
Albinism cannot be prevented. If you have albinism or have a family history of albinism, you should first consult with your doctor when planning a pregnancy. The goal is to determine the risk of albinism being passed on to the child you will bear.