Albinism

1 What Is Albinism?

The body is known to produce a pigment called melanin. This pigment is mainly responsible for giving color to the eyes and skin. It is also responsible for maintaining the functioning of the optic nerves, which is associated with vision.

Albinism is a genetic disorder characterized by little or no production of melanin, the pigment that gives color to skin, hair, and eyes. The signs and symptoms of this disorder are present from birth. The color of the hair and skin of the affected person depend on the amount of melanin present in the body.

People with albinism may also have eye problems. Albinism increases the risk of sunburn and skin cancer.

There is no treatment for albinism, but proactive measures can help prevent eye and skin problems. It affects people of all races.

There are two major types of albinism: oculocutaneous albinism and ocular albinism.

Oculocutaneous albinism affects the skin, hair, and eyes, while ocular albinism mainly affects the eyes.

Skin and hair can show normal coloration in ocular albinism.

2 Symptoms

Color changes in the skin, hair, and eyes are the most common symptoms of albinism.

All people who are affected by this genetic disorder have vision problems. The color of the skin ranges from white to light brown.

In some cases, the skin color may resemble that of their parents.

Exposure to the sun may result in moles, freckles, and freckle-like spots called lentigines.

Hair color ranges from white to brown. Eye color can be light blue to light brown.

As the irises are barely colored, stray light is not screened and gives a red tinge in some lighting.

The major symptoms of vision problems are:

  • Nystagmus – shaking or involuntary movements of the eyes
  • Strabismus – misalignment of the eyes
  • Photophobia – sensitivity to bright light
  • Refractive error – short-sightedness, far-sightedness, or astigmatism
  • Decreased vision – the central part of the retina is not well developed
Have a question aboutGenetic DisordersAsk a doctor now

3 Causes

Albinism is caused by a lack of melanin, the pigment that gives the hair, skin, and eyes their color. It is a genetic disorder inherited from one’s parents.

Children with albinism get one gene from each parent. Parents may have normal pigmentation as they are solely carriers of the genes.

The genes are responsible for the production of melanin, so the gene mutation may result in little or no production of melanin, affecting the color of the skin, hair, and eyes.

Vision problems result from the abnormal development of the optic nerve pathways. Abnormal development of the retina also leads to vision issues.

There are different types of oculocutaneous albinism based on the type of gene mutation.

4 Making a Diagnosis

A thorough physical examination is the definitive diagnostic procedure for albinism.

A complete eye examination is important to check for major symptoms like strabismus, nystagmus, refractive errors, and photophobia.

Tests are also done to check for abnormal development of the retina.

Vision problems are a confirmatory diagnostic symptom of albinism. 

5 Treatment

There is no complete treatment for albinism.

Proper care of the eyes and skin are important to prevent complications.

Annual eye checkups are also important, particularly for children.

Nystagmus can be reduced with surgery. Surgery may not be effective in improving vision in the case of strabismus.

Thorough skin examinations for lesions and patches are important to reduce the chance of skin cancer.

Misalignment of the eye can be treated with glasses. Glasses are also recommended to reduce photosensitivity and photorefractive errors.

The type of optical aid may vary from person to person.

Genetic counseling for the affected person and family is also important.

Natural methods to treat albinism include:

  • Sunscreen: A patient suffering from albinism should always protect their skin, even if they are indoors. Use sunscreen lotions that prevent UVA and UVB rays. These lotions should be applied everywhere on the body, mostly on the exposed areas of the skin, and at all times. The skin is very sensitive to harmful UV rays, hence, it is essential to always keep sunscreen lotion with you. Be sure to wear clothing that is UV-proof, and, when you wear swim wear, it should provide more protection than any other ordinary clothing when you are out in the sun.
  • Eye exercises: As mentioned earlier, due to albinism, children tend to suffer from irregular movement of the eyes, which is also known as nystagmus. In such a condition, the eyeballs become unstable and keep moving. It does not cause any changes in vision, but one should ensure to keep it under control. You can do certain eye exercises by focusing on certain objects, which may help to treat the condition. There are also other eye exercises that can be carried out to strengthen the eye muscles.
  • Exposure to the eyes: The eyes are one of the most important organs in the body, and we have to protect them at all times. Hence, one should always wear UV protective sunglasses when out of the house. If possible, avoid exposing the eyes directly to the sun as much as possible. Wear hats and sunglasses often and, if you are able, avoid going out during the afternoon or on sunny days.
  • Stay fully clothed: Patients with albinism should be very careful to protect their skin. Thus, it is very important to always be conscious of the types of clothes you wear. At all times, one should ensure to wear clothing that covers the skin, especially when you step outside the house. As a precaution, you can also stay fully clothed while inside the house. Make sure to wear tops that have long sleeves, full-length jeans or pants, and hats, especially while out. Wearing gloves and socks is also beneficial. Remember, albinism has no cure and can also have negative effects on the skin, so stay protected at all times to prevent any harmful complications.
  • Wear glasses: Children who have albinism usually suffer from eye problems, both near- and far-sightedness. So, it is important to visit an ophthalmologist early on to ensure the child’s eyesight is kept under control. One should also regularly wear bifocal lenses, which can be prescribed by the doctor. If you avoid wearing glasses, there are chances that you may end up requiring surgery for the eyes.
  • Red raspberry oil massage: The botanical name for red raspberry is Rubus Idaeus. The seed of this plant is used to make oil that is known to protect people with albinism from the harmful rays of the sun. The red raspberry is said to have an SPF as high as 50. It helps protect a person from the harmful UVA and UVB radiation emitted from the sun, and it also has mineral sunscreens similar to those which contain chemicals like titanium dioxide. Red raspberry also has antioxidants and essential fatty acids, which also protect the skin from damage.
  • Moisturize with an herbal oil mixture: One can prepare a homemade herbal moisturizing mixture to safeguard the skin from the harmful rays of the sun and act as a protective sunscreen. To prepare this herbal mixture, you can combine lavender oil, myrrh oil, and geranium oil along with other essential oils, such as clove and thyme, and carrier oils, such as avocado or olive oil. This mixture can be applied to the skin to provide relief from harmful sunrays. When you apply this oil mixture on the skin, it acts as a protective coating and ensures safety from the skin-penetrating rays of the sun. As previously mentioned, it is best to avoid any kind of direct exposure to the sun, but if it is absolutely necessary, this herbal oil mixture can work as a sunscreen to shade and protect the skin from the harmful impact of the sun. It also provides a lubricating effect and heals dry skin.
  • Prepare a natural sunscreen: You can prepare a natural sunscreen by mixing sesame oil, vitamin E oil, lavender oil, and aloe vera gel or extract. The ingredients should be mixed well before used on the skin and hair. It has been observed by researchers that sesame oil can help to naturally block sunrays by 30%–40%. Aloe vera also has some amazing skin properties, as it possesses amazing sun-blocking properties. The essential oil lavender is said to provide lubrication to the skin as well as form a protective coating on the skin. Lastly, vitamin E oil makes the skin suppler and stronger.
  • Dietary changes: Add healthy foods to your plate so that the body is strong enough to fight off any infections or diseases. Vegetables such as yams, broccoli, collards, red, yellow, or green bell peppers, and cabbage all are known to contain some amazing nutrients that can help protect the skin from harmful ultraviolet rays. Fruits which are known to help protect the skin from the sun include blackberries, blueberries, and goji berries. You can also look to include fish such as salmon in your diet. All of these foods are said to be high in certain substances which protect the skin from damage. These foods also help prevent free radical damage caused to the body. So, be sure to make these foods a part of your daily diet in some form or another.

6 Prevention

As albinism is a genetic disorder, there is no way to prevent it.

Genetic counseling helps to understand the chances of having a child with albinism, if the parents are carriers of the mutated gene.

Genetic tests are available to check for genes that result in this disorder.

7 Alternative and Homeopathic Remedies

There are several eye exercises and optical aids available to help reduce the symptoms of vision problems.

Herbal and natural oils are suggested to reduce photosensitivity.

Red raspberry oil is used to provide sun protection.

Herbal oil moisturizing mixtures and carrot seed oil are also known to protect the skin from harmful sun rays.

8 Lifestyle and Coping

There are different ways of adapting your lifestyle to cope with albinism:

  • Visual aids are useful for enhancing vision.
  • Family and friends can make a huge difference in deciding the lighting, optical aids, and social and emotional growth of a child affected by this disorder.
  • Since children with albinism are prone to sunburn and skin cancer, special care should be taken to avoid excessive exposure to the sun.
  • Support groups help in gathering information regarding the disorder. It also helps to deal with feelings about the condition.

9 Risks and Complications

Sunburn and skin cancer are the most serious complications associated with albinism.

Children affected by this disorder may feel depressed or be socially isolated. It can also lead to poor self-esteem.

Top