Albinism: Types, Causes and Diagnosis (Updated)

albinism

The Meaning of Albino

Albinism is categorised as a rare, non-contagious, genetic disorder which has minimal or no production of a pigment known as melanin. The type and amount of this pigment basically controls the colour of your skin, eyes and hair.

It is also associated with complications in eyesight and vision.

It occurs around the globe regardless of your gender and ethnicity as production of melanin doesn’t depend on your skin or caste.

 

albinism image

According to a research conducted by World Health Organisation (WHO) in Sub-Saharan Africa every 1 out of 5,000-15,000 people and in Europe and North America every 1 out of 20,000 is with albinism.

Albino People

This condition results in the occurrence of white to very lightly blonde hair colour, whereas some people belonging to the same group might have brown or ginger coloured hair.

 

albinism little girl

The actual colour of hair in individuals specifically depends on the amount of melanin produced in the body.

People with albinism have pale skin which has higher sensitivity towards sunlight and they don’t get a tan either which is a typical sign of albinism.

Albino eyes

The lower quantity of melanin can result in eye problems.

This is because of the fact that this pigment is involved in the formation of retina and the sleek cell layer which lies at the back of your eyes.

 

Reduced eyesight, astigmatism, squinting and some more are possible eye problems related to it, and we will discuss them in the symptoms section below.

Albinism Symptoms

The signs and symptoms in people with albinism include skin, eye, hair colour and eyesight and vision problems.

albinism symptoms

Let’s discuss them briefly in the description below.

Skin

The common symptoms of albinism related to skin include, very light toned skin as compared to your siblings.

However, the skin colour may vary from white to light brown and in some cases it is close to the skin colour of your parents or family members who do not have albinism.

But when the people with albinism have direct exposure to the sun, they may develop,

  • Freckles
  • Black or pink (lacking the pigment) moles
  • Large spots that are exactly freckles but looks like them (lentigines)
  • Easily getting sunburn
  • In ability to get a tan

The skin pigmentations in some people remain the same over years. However, in some they may it may fluctuate and increase from childhood to teen years thus causing a change in skin tone.

Hair

The colour of hair may range from white to light brown. The colour of hair may vary depending on your race for instance, albino people belonging to Africa or Asia  may have hair colours like yellow, reddish or brown.

The hair colour may get darker through childhood or change due to the exposure to the environment and water with normal minerals in it.

These may result in hair colour darkening over years.

Eye Colour

The colour of eyelashes and eyebrows are mostly pale and light. However, the eyes may range from colouring light blue to brown and they may even show transition with age.

This reduced pigmentation result in a translucent irises which are unable to completely block the light from getting in to your eyes.

Therefore, some eyes of very light in colour may appear to be red in certain lights.

Vision

A child with albinism faces different types of albinism which result in vision impairments. These impairments may include,

  • Rapid circular involuntary movements of eyes
  • Head tilting in response to control the eye movements and to see better
  • Problem in eye movement coordination and moving them in unison
  • Extremely high nearsightedness or farsightedness
  • High sensitivity towards light
  • Eye coloring is also quite a significant aspect
  • White hair is very common
  • Blurred or unclear vision
  • Abnormal retinal formation causing compromised vision
  • Low depth perception
  • Legal or complete blindness

Generally, visiting your eye doctor and regular eye exams are important too but its significance increases immensely with this condition.

Albinism Causes

There are different form of albinism.

It is a genetic disorder and different genes help in producing melanin. Albinism results from mutation in one of such genes.

albinism causes

There are various type of albinism solely depending on the type of gene mutation occurred.

Albinism Types

Following are the types of albinism based on the affected gene and its inheritance,

1. Oculocutaneous Albinism (OCA)

It is the most common type which includes the passage of two mutated copies of genes. OCA results in reduced pigment in the skin, hair and eyes and causes problems in vision.

2. Ocular Albinism

This type of albinism specifically affects only eyes and results in vision problems. The most common one is type 1 which is related to X chromosome mutation. It is an X linked condition and can be passed on by a mother to her son. It is more commonly occurring in males and is not as common as the former type.

3. Albinism Related to Rare Hereditary Syndromes

Some syndromes can result in albinism. For instance, Hermansky-Pudlak syndrome result in OCA along with bleeding and damage problems as well as lung and bowel diseases. On the other hand, Chediak-Higashi syndrome results in OCA along with loss of immunity which in turn cause frequent infections and some other related problems.

 

Moreover, to know about other skin conditions, don’t forget to check our other blog posts on dermatitis and blisters.

Albinism Diagnosis

Diagnosis related to this condition usually involve,

  • Physical medical examination
  • Talk related to changes in skin and hair pigmentation
  • Detailed medical examination of eyes by an eye doctor
  • Drawing comparison of pigment colouration between different family members

Furthermore, there are some other disease which can result differences in pigmentation but they eyes remain unaffected. But if both these symptoms are present then the cause is more likely to be albinism.

The most widely accepted and accurate way for its diagnosis is genetic testing. But it is not usually necessary in families with albinism history.

Albinism Treatment

There is no ultimate treatment and cure of albinism.

However, treatment may help in relieving and lessening symptoms and prevent from damages.

Protection and care for eye may reduce the eye related problems. This may include,

  • UV protective sunglasses for eye protection from sun
  • Proper clothing and usage of sunscreen for skin protection against UV rays
  • Using eyeglasses with prescription to improve the vision
  • Eye surgery to correct the eye muscle to help reduce the involuntary eye movements shaking
  • Regular eye check-ups

Surgeries can help in correction of alignment of eyes and help make it less noticeable but these surgeries will not improve your eyesight.

Also the success level of the surgery and reduction in symptoms highly varies from one person to another.

Albino Animals

Albinism also occurs in animals including, mammals, birds, reptiles and amphibians.

However, albino animals are considered to be very sacred and lucky but reportedly albinism is very difficult for animals.

Why so?

Because they are most likely to get attacked by their preys in the wild.

Some of the most searched animals with albinism include:

Cyclopia is a condition that occurs in baby sharks which causes embryo to form just single eyes in place of two.

Whereas, albinism causes the occurrence of white colour in body.

Click here to see and read more about albino cyclops shark.

peacock

It’s a white peacock is a different genetic form of Indian Blue Peafowl but lacks the pigment for its colours.

It also has different feather structure from the common Peafowl.

Social and emotional challenges

There can be multiple social and emotional challenges for people with albinism as they tend to face discrimination.

The negative reactions of people around can directly impact their well-being.

In schools and colleges, the children with this condition have to face bullying, teasing or interrogation related to their physical features, appearance and devices for their visual aids.

albinism socioeconomic

The different appearance from their family members can result in them feeling like an outsider. These may further contribute to low self-esteem and psychological problems.

Therefore, feeling them inclusive is important part for us as a community and they can seek psychological help for getting over these social and emotional problems.

Conclusion

This condition does not gets worse or decline with the increase in age.

Albinism affects many people and with this condition they might have to limit their outdoor activities to some extent as their eyes and skin may react sensitively due to UV rays from sun.

These UV rays can further result in skin cancer and loss of vision in some cases. So, it is important to take proper precautions for it.

The people with albinism can have a happy and healthy life and they can achieve same eduction and do same jobs as the people without this condition.

 

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