Albinism – Causes, Symptoms and Treatment

What is albinism?

Albinism is an inherited disorder that causes mutations in the genes that affect melanin production in the body. Melanin is a pigment that controls the pigmentation and decides the colour of the eyes, skin and hair.

People affected with albinism will have extremely pale skin and hair. People affected with albinism are prone to skin cancer and sunburn. Melanin also plays a role in optic nerve development. So, people with inherited albinism will have eye problems.

Albinism affects all people and all ethnic groups. People affected with albinism are called albinos. However, the preferred usage will be people affected with albinism.

Albinism is not a disease; it is an inherited or genetic condition. It is not a contagious condition and will not spread from one person to another. However, albinism can run in families.

People affected with albinism will have white hair and light-coloured (pale) skin. The colour of skin and hair ranges from white to brown.

Types

There are many types of albinism, and the levels of pigmentation depend on the type of albinism and the production of melanin. The different types of albinism are briefed.

Oculocutaneous albinism (OCA)

Oculocutaneous albinism is the most common type of albinism. People with oculocutaneous albinism will have extremely pale skin and white hair. It results from mutations in the genes of OCA2, TYR, TYRP1 and SLC45A2. People will have light-coloured eyes, red or brown eyes and pale skin.

Ocular albinism

Ocular albinism affects the eyes and optical nerve. The coloured part of the eye, called the iris, will be black pigmented. This will help us to focus the image at the back of the eyes, called the retina.

Ocular albinism causes impairment in vision and reduces the sharpness of vision. It causes permanent vision loss. Other problems caused due to ocular albinism include involuntary eye movements, eyes that look in different directions and increased sensitivity to light.

Unlike the other types, people affected by this type will have problems associated with their eyes. Their complexion of skin and hair will be comparatively lighter when compared to others in the family.

Albinism related to rare hereditary syndromes

Some of the rare hereditary albinism syndromes are briefed below.

Hermansky-Pudlak syndrome

Hermansky-Pudlak syndrome is a type of albinism that includes oculocutaneous albinism. People affected with this type of albinism are more prone to skin cancer and skin damage when they are exposed to the sun for a longer time.

It also reduces the colour pigmentation in the eye and causes problems related to the eyes. People with Hermansky-Pudlak syndrome are more sensitive to light.

People affected by this type of albinism will have blood clotting problems that can lead to bruising and prolonged bleeding problems. Sometimes, these problems can be life-threatening.

Chediak-Higashi syndrome

Chediak-Higashi syndrome is a rare inherited disorder that causes reduced pigmentation in the skin and eyes. This syndrome is immune-related, and people affected by this condition are prone to bruising and can easily bleed. Other neurological deficits are also common in this condition.

The symptoms appear during the infant stage. An infant affected with Chediak-Higashi syndrome has blonde hair or light brown. Children affected by this condition are photosensitive (sensitive to light) and have reduced pigmentation in the eyes. Other eye defects like rapid involuntary eye movement are also reported.

Griscelli syndrome

Griscelli syndrome is an inherited condition with hypopigmentation in the skin, and people affected with this condition are prone to recurrent infections. These symptoms set in during the infant stage.

People affected with Griscelli syndrome have also reported having brain dysfunction, apart from pigmentation problems.

Sometimes, the condition can cause overactive immune cells that can damage internal damage. This condition can be life-threatening if left untreated.

Symptoms

Some of the common symptoms of albinism are listed below.

Very pale skin, hair and eyes

People affected with albinism have pale skin and brown or blonde hair. This is due to the reduced production of melanin that can cause pale skin. People also have vision problems due to reduced colour in the iris. Iris is the black colour of the eye that helps focus the image.

Patches of missing skin pigment

Patches of missing skin are caused due to a deficiency in melanin production. When there is irregular production of melanin, there will be patches of skin colouration in the skin. There will be brown-coloured skin with irregular patches of pale skin.

Crossed eyes (strabismus)

Strabismus is a condition where the direction of one eye will be different from the other. Children affected with albinism may be affected by this condition, but this condition will resolve itself by the time the child turns eight.

Rapid eye movements (nystagmus)

Nystagmus is abnormal eye movement. The eyes tend to move from side to side and in a circle. Children affected by albinism will have this abnormal eye movement.

Nystagmus condition resolves or improves over time. In most cases, special treatment will not be required.

Vision problems

Vision problems in albinism-affected individuals are common. There will be less or no pigmentation of melanin in the iris. As a result, there will be vision problems which can lead to complete blindness.

At first, the vision problems will be mostly blurred, and the lens will be in an abnormal shape. As time progresses, it can lead to blindness.

Light sensitivity (photophobia)

Light sensitivity or photophobia is a common problem in people affected with albinism. This is because due to reduced production of melanin and sun exposure can cause severe sunburns. It can later develop as skin cancer and skin thickening due to sun damage.

Causes

Albinism is caused due to mutation in certain genes, and the reason is briefed below.

Is it genetic?

Albinism is an inherited or genetic condition. They run through families when a gene is inherited from the affected child’s parent. It can skip a generation and affect the following one.

In oculocutaneous albinism, both maternal and paternal should carry the defective gene to pass the condition to their child.

According to NCBI, it states that when both parents carry albinism gene, children born to the parents will have no albinism. However, there is an increased risk of children heterozygous.

Autosomal recessive inheritance

Autosomal recessive inheritance disorder is a condition of passing the genetic trait to their children. It can be inherited when the child carries the defective or mutated copy of the gene.

According to data published in NCBI, titled “Albinism”, states that oculocutaneous albinism and ocular albinism are passed to their children through autosomal recessive inheritance.

Additionally, it states that the children should carry one copy of the mutated gene from each parent to get this condition.

X-linked inheritance

Ocular albinism is usually passed through X-linked inheritance. When albinism is passed through X-linked inheritance, it affects girls and boys in a different pattern.

Girl children will become carriers of the mutated gene, whereas boys will be affected with albinism. For example, when the maternal is affected with albinism, there is a chance of her offspring getting affected with albinism in one in two chances.

When the paternal is affected with albinism, his daughters will be carriers while his sons will neither have albinism nor be carriers.

If your family has albinism, it is recommended to talk to a genetic counsellor before getting pregnant. This will help to avoid the carrying the mutated genes to their offspring and prevent the defected genes from running through families.

Complications

People affected with albinism can face certain challenges related to skin and eyes. They also undergo a lot of social and emotional challenges.

Eye complications

Eye complications like vision problems and blurred vision can have an impact on how a person learns new skills and implements them in their life. Sometimes, their daily routine can be affected due to these eye complications.

Skin complications

People affected with albinism will have patches of skin colour. The skin colour will be pale, and their hair colour will be brown or ginger brown.

Lack of melanin production or less melanin production can cause sunburns when exposed to the sun. It can also lead to skin thickening due to a long time exposure to the sun. Skin cancer is a common complication in people affected with albinism.

Social and emotional challenges

People with albinism will face a lot of social and emotional challenges. The colour of the skin can grab other people’s attention.

They tend to get questions from others which can be a barrier for them to be normal in social gatherings. Their skin colour makes them look different from their own family members. This can make them feel like an outsider which can lead to social isolation.

It is our responsibility to make people feel comfortable irrespective of the disease. The inherited condition is caused due to genetic disorders, and we should behave in such a way that people with albinism do not get hurt in any way, and they should feel socially included.

Diagnosis

Some of the common diagnostic methods for albinism are listed below.

A physical exam

A thorough physical examination will help to identify the condition. People affected with albinism will have different skin colours, and with physical examination, the doctor will be able to identify the presence of mutated genes.

A thorough eye exam

A thorough eye exam will help the doctor to diagnose whether the person affected has any vision-related problems. If identified early, it will help them to treat it effectively.

Comparison of your child’s pigmentation to that of other family members

Comparing the skin pigment with other people in the family will help you identify whether the child is born with a mutated gene.

If the colour of the child is pale or different from other family members, it can signify that the child is carrying the mutated gene.

Review your child’s medical history

When your child exhibits certain symptoms like pale skin, it is better to review your child’s medical history. This will help to identify the health condition properly.

Treatment

Currently, there is no treatment for albinism as it is a genetic disorder. The treatment for albinism will mainly focus on mitigating the symptoms and handling the abnormalities caused due to mutation.

Eye care

Eyes are important for carrying out our daily activities. Eye care is important, so frequent visit to the ophthalmologist is important.

Sometimes, surgery will be required to correct the eye problems. However, surgery will not be required in all cases. Some vision problems can be corrected with contact lenses and spectacles.

Other eye-related problems like nystagmus and strabismus may improve as the child grows and ages.

Skin care and prevention of skin cancer

Skin care is important for people with albinism. It is required to get checked annually by a dermatologist. This will help to diagnose and treat early cancer cells.

Skin burns are a major complaint by people affected with albinism. So, it is important to apply doctor-prescribed sunscreens. A common form of skin cancer called melanomas causes pink lesions on the skin. These lesions can be treated with the help of medical care and treatment.

Sunglasses

Sunglasses can prevent harmful UV rays from damaging the eyes. People will have reduced melanin production in their eyes. So sunglasses can protect their eyes from getting further damaged.

Protective clothing and sunscreen

Usage of protective and soft clothing will help to prevent sunburn and skin damage. Sunscreen with a suitable SPF (sun protective factor) will prevent skin damage.

Prescription eyeglasses

Always use the prescribed eyeglasses from your doctor. This will help with vision problems.

Surgery on the muscles of the eyes

Sometimes a minor surgery will be required to correct eye-related problems. After surgery, the vision problem can be corrected with eyeglasses or contact lenses.

Lifestyle and home remedies

Albinism is not a serious illness and can be handled with certain lifestyle changes and self-care tips.

Use low vision aids

Low vision aids can help with vision problems. Always have them handy. This will help the kids to be independent and work on their vision skills.

Always use sunscreen

Sunscreen is important to avoid damage caused to sun exposure. It is also important to use the correct sunscreen with correct SPF to block the sun rays damaging the skin.

Strictly avoid high-risk or prolonged sun exposure

Prolonged sun exposure can lead to skin damage, bruises and lesions. So avoid exposing yourself to the direct sun.

Wear protective clothing

The type of clothing you wear is important. Wear clothes that protect your skin and also make sure that clothes are soft and comfortable. If you have itching, avoid wearing that cloth and use a hat to protect your face.

Protect eyes

Eyes should be protected with sunglasses. Avoid looking directly into the sun. Also, prefer UV-blocking glasses to protect the iris from further damage.

Conclusion

Albinism is an inherited skin condition, and there is currently no treatment for it. There are certain treatments available to mitigate the symptoms.

Grown-up individuals face a lot of emotional and social challenges. Children affected with albinism can also under a lot.

Make it a habit to sit with your kid and make them talk about their feeling and emotional needs. This will help them to overcome social isolation.

When kids talk it out, this will help them to be confident in their life. Also, notice if your kid is being teased in school. This can have an effect on their self-esteem. Talking to someone can help them overcome all emotional needs and challenges.

It is important for us to make an inclusive community for our children and fellow beings. It is our social responsibility to make people comfortable in their social life.

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