Albinism is a genetic condition where people are born without the usual pigment (color) in their bodies. And it is caused by genetic defects inherited by children from their families. Their bodies are unable to produce a normal amount of melanin, the chemical that is responsible for eye, skin, and hair color. Most people with albinism have pale skin, hair and eyes. There are different types of albinism depending on different gene defects. Although there is no cure for albinism, people can have a normal life like other people by taking necessary precautions. It is a rare condition. Not only humans, but animals and even plants can have albinism.
Table of Contents
What is Albinism?
Albinism is a genetic condition where people are born without the usual pigment (color) in their bodies. Their bodies are unable to produce a normal amount of melanin, the chemical that is responsible for eye, skin, and hair color. Therefore, people with albinism have pale-looking skin, hair and eyes. In addition to humans, animals and even plants can have albinism. Albinism can affect people from all racial backgrounds.
Types of albinism
Some individuals with oculocutaneous albinism have extremely pale hair, eyes and white hair, whereas others with the same form of albinism may have more colors in their hair, eyes or skins.
However, only eyes are affected in ocular albinism. These people with albinism generally have blue eyes. In some cases, iris (colored part of the eye) has very few color, therefore, such eyes may look pink or reddish. The reason is the blood vessels inside the eye. In some ocular albinism forms, acoustic nerves may also be affected, leading to hearing impairment or deafness over time.
Causes of albinism
Albinism is a result of the body’s inability to produce and distribute melanin due to a genetic defect. Melanin is a natural substance that gives color to the hair, hair, skin and iris of the eye in the body. It is completely inherited from parents and is congenital.
External and environmental factors have no effect. Although it appears to be a condition that only affects the external appearance, but it is actually accompanied by visual impairment or poor vision.
Disease gene is recessively carried in the chromosomes. The incidence rate of the disease in children depends on the genetic characteristics of the mother and father. There are two common genetic forms:
- X-dependent genetic form: The most common form of albinism depends on X chromosome damage. Boys with ocular albinism (OA) have one X chromosome inherited from their mothers. Half of the boys of mothers with defective X chromosome have this condition. On the other hand, girls are either carrier or unaffected unless their fathers have OA.
- Autosomal recessive (non-dominant) genetic form: A less common form of albinism is caused by the defects of autosomal recessive genes. Both parents carry defective recessive gene. In that case babies have effective gene. Twenty-five percent of children do not have albinism. The likelihood of albinism is equal for girls and boys.
Characteristics of albino people
- Hair and skin color: Depends on amount of melanin produced by the body. Generally, they have white or very light yellow hair, however, some people may also have brown or gingerish hair. Very pale skin that easily gets a sunburn instead of a suntan is a typical example of albinism. In addition, colorless patches form on skin. People with albinism from African or Asian origins can have yellow, reddish or brown hair color.
- Eye color: A person with albinism can have pale blue, gray or brown eyes. Eye color depends on albinism type and melanin amount. Eyelashes and eyebrows are pale. The lack of pigments in the colored parts of eye leads to somewhat transparent irises. This means that irises are unable to completely prevent light from entering into eye. Therefore, eyes with very light colors may look red under certain lights.
Lack of melanin can cause eye problems in people with albinism. The reason is that melanin contributes to the development of retina, the thin layer of cells behind the eye. Possible eye problems related to albinism:
- Poor vision: Myopia or hypermetropia and poor vision (unrecoverable loss of vision)
- Astigmatism: Blurred vision due to irregular curvature of the cornea (the clear front cover of the eye) or abnormal shape of the lens
- Photophobia: Extreme eye sensitivity against light
- Nystagmus: Involuntary back and forth movement of the eye muscles
- Strabismus (Diplopia): Misalignment of one or both eyes due to the inability to focus and maintain proper direction when looking at an object.
Some children with albinism may look clumsy because they may have difficulty to perform certain tasks, such as picking up an object, due to their eyesight problems. This problem may get better as they grow up.
Albinism affects mammals, birds, fish species, reptiles and frogs. You can also see albino cockroach (albino roach), albino giraffe, albino squirrel or albino tiger. But these are very rare. Not all albino animals are pure white; some characteristics regulating melanin allow for pigment production in their furs. And not all white animals have albinism.
We can differentiate them by looking at their eye colors. Melanin contributes to the eye and vision quality development of animals. Eyes of animals, whose irises lack brown-black and yellow-red pigments, appear pink or pale blue.
How to diagnose albinism?
Genetic testing for albinism
Generally, albinism can be diagnosed at the time of birth. Hair, skin and eyes of the baby can be examined to search for pigment deficiencies. The method of diagnosis is genetic test. This test identifies the albinism-related gene defect.
Electroretinogram test (Vision test report)
In addition, as albinism can cause several vision disorders, babies can be referred to an ophtalmologist. Electroretinogram test, measuring the response of light-sensitive cells in the eye, is performed for the determination of eye problems. Albinism diagnosis is made according to the results of the tests.
In addition, albinism can rarely be accompanied by some syndromes. For example, Hermansky-Pudlak syndrome (HPS) is a form of albinism caused by a modification in a single gene. It may be manifested by bleeding disorders in lungs, kidneys or intestines.
If a child with albinism is having frequent nosebleeds, easy bruising or chronic infections, medical advice must be sought immediately. These symptoms may indicate the presence of Hermansky-Pudlak syndrome or Chediak-Higashi syndrome, which is are serious disorders involving albinism.
Currently there is no cure for albinism. It cannot be diagnosed through the tests performed during pregnancy. The purpose of albinism treatment is to minimize the symptoms. Moreover, treatment also contributes to the prevention of damages inflicted by sun exposure. And although there is no definitive treatment for eye problems caused by albinism, there are different supportive treatments that can improve eyesight. These are;
Glasses and contact lenses
Children with albinism require regular eye examinations as they grow up and they often need to use glasses or contact lenses to correct myopia, hypermetropia or astigmatism.
Aids for poor vision
Children with albinism need support especially during school years for their poor vision.
Vision aids include:
- Books printed with large font size etc.
- Ancillary devices such as field glasses, telescopic glasses
- Large computer screens
- Tablets and phones that enable screen magnification to allow texts and images to be seen easily
For photophobia or light sensitivity
Using sunglasses, tinted glasses, and wearing wide hats outside can be helpful for light sensitivity. Even babies with albinism must use sunglasses.
Currently there is no treatment but it is not painful and does not get worse over time. Some toys or games may help a child with albinism to make the best of their eyesight. An ophtalmologist can give more advice. Sometimes surgical intervention involving splitting and reconnecting some of the eye muscles can be an option.
Main treatments for diplopia include glasses, eye exercises, surgery and injections into eye muscles. Albinism does not cause complete blindness. Although some people with albinism are “legally blind” that does not mean that they have completely lost their vision.
Does albinism lead to skin cancer?
Melanin, in addition to giving color to eyes and hair, protects the skin from the sun. This allows skin to get tanned instead of burnt. Therefore, the risk for getting a sunburn for darker skinned people is less than the lighter skinned people. As people with albinism lack melanin in their skins, they have a greater risk of sunburn and skin cancer.
If they don’t regularly use dermatological products, especially sunscreens, there is an increased risk of skin cancer at an early age. At least factor 30 sunscreen should be used. In addition, wearing clothes like hats, dark-colored clothes, long pants and long shirts is also very important to protect against sun. They can go out under the sun by taking these precautions.
Moreover, they should pay attention to skin changes and immediately consult a specialist if they observe any skin spots, tumors, or nodes. Skin cancer treatment can be easier in case of early diagnosis.
What is the life expectancy of someone with albinism?
Aside from eye problems, most people with albinism can live as healthy and long as others. However, Hermansky-Pudlak syndrome (HPS), may shorten the life expectancy due to lung disease or bleeding.
Social life with albinism
Some people with albinism can be exposed to discrimination due to their different appearance and this has a negative psychological impact especially during childhood. Children with albinism may feel as if they are excluded because they look very different their family.
These experiences may lead to social isolation, poor self respect and stress. Referring to psychology consultants to cope with these problems help people with albinism to develop a healthy psyche. And it is also very important for parents of children with albinism to raise their awareness about the disease.