Albinism Insights: Types of Albinism, Causes and Symptoms.

Have you seen someone with notably pale skin, frosty hair, and light-coloured eyes? These features are the results of albinism– a rare genetic condition.  

In this blog we will look into what albinism is, its types and symptoms and how one can help or improve in managing the condition.  

What is Albinism:

Albinism is a rare genetic disorder where the body produces little to no melanin. Melanin is a chemical that is responsible for the pigmentation (colour) of the skin, hair, and eyes. Melanin is also involved in the development and functioning of the eyes and as a result, people with albinism may have vision problems.  

Melanin usually protects the skin from UV damage hence, people with albinism are more sensitive to sun exposure, leading to skin cancer.  

Albinism can affect people of all ethnicities and races worldwide.   

What are the types of Albinism:

There are different types of Albinism based on how they are passed down in the family and the gene that is affected. Levels of pigmentation vary depending on the type of albinism the person has.  

The different types of Albinism include: 

  1. Oculocutaneous albinism: Oculocutaneous (pronounced “ock-you-low-kew-TAIN-ee-us) albinism or OCA is the most common type of albinism. People with OCA have very pale skin, hair, and eyes. It is further divided into several subtypes depending on the specific genes it affects (OCA1 to OCA7). 

     2. Ocular Albinism: Ocular albinism or OA is less common than OCA and affects only the eyes, and the skin and hair colour are usually normal. People with OA mostly have blue eyes and sometimes due to pale irises the eyes may appear red or pink. This happens because the blood vessels inside the eyes show through the irises. 

      3.Hermansky-Pudlak Syndrome: Hermansky-Pudlak Syndrome, also known as HPS, is a rare type of albinism. It includes a form of OCA along with blood disorders, bruising issues, lung and bowel diseases.  

      4.Chediak-Higashi Syndrome: Chediak-Higashi Syndrome is another form of rare albinism that includes a form of OCA along with immune system defects making individuals more prone to infections and at times neurological issues.  

Causes Of Albinism:

Albinism is an inherited condition caused by defect in one of several genes that are responsible for melanin production.  

Various genes give instructions for making one of several proteins that are involved in producing melanin. Melanin is produced by cells called melanocytes that are found in the skin, hair, and eyes.  

Albinism is caused by a change in one of these genes and different types of albinism occur based mainly on which gene change caused the disorder. The gene change might result in no melanin at all or a big decrease in the amount of melanin produced.  

These defects or mutations are usually inherited in an autosomal recessive manner 

Symptoms of Albinism:

The symptoms of albinism may vary depending on the type and severity, but generally include 

1. Skin:

The most obvious sign of albinism is a lighter skin, although this might not always be the case. In some people the level of melanin slowly increases over time, darkening the skin as the person ages.  

The individual’s skin might burn in the sun and does not tan. After the exposure to the sun people with albinism might develop freckles, moles – with or without colour which are sometimes pink due to the reduced quantity of pigment, and lentigines – that is large freckle-like spots.   

2. Hair:

People with albinism may have hair colour from the range of white to brown. People with Asian or African descent may have yellow, red or brown coloured hair.  

As the individual ages, the hair colour may slowly darken.  

3. Eye Color:

Eyelashes and eye color is often pale ranging from very light blue to brown. Due to albinism, as the irises usually do not have enough pigment, it allows the light to shine through the iris making the eyes extremely sensitive to bright light, known as photosensitivity.  

This also causes the iris to appear translucent and in specific light, it can appear red or pink. 

4. Vision:

All type of albinism affects the vision to a certain degree. Vision problems may include- 

  • Strabismus or crossed eyes 
  • Astigmatism: An abnormal inflexibility of the front surface of the eye or lens results in blurred vision 
  • Nystagmus: The eyes move rapidly and uncontrollably back and forth 
  • Amblyopia: This is the medical name for a lazy eye.  
  • Photophobia: The eyes are particularly sensitive to light. 
  • Myopia or hypermetropia: The person may have extreme near-sightedness or farsightedness. 
  • Optic nerve misrouting: Nerve signals from the retina to the brain follow unusual nerve routes. 
  • Optic nerve hypoplasia: Visual impairment happens because an individual’s optic nerve is underdeveloped. 

How is Albinism diagnosed?

The most accurate way for diagnosing albinism would be through genetic testing to check the mutations related to albinism. The test will also determine which type of albinism the individual has.  

Ophthalmological examination is also done to examine the eyes for the signs of albinism such as nystagmus, astigmatism, etc. 

Physical examination can also be done to analyse skin and hair pigmentation and check other associated traits.  

Albinism affects an individual physically and mentally.

Physically, individual with albinism will often face vision problem, skin sensitivity and other health associated conditions. This can hinder daily tasks and learning. 

Mentally and emotionally, albinism can lead to social stigma and isolation, as the noticeable differences may lead to discrimination and exclusion. This can affect the self-esteem of the individual contributing to anxiety and depression.  

Such situations demand the need of supportive and inclusive communities and environment to assist those with albinism to prosper. 

Manage Albinism:

As there are no treatments for albinism, several simple ways can be adopted to manage the condition and improve the way of living: 

  • Sun-protection: Avoiding sun exposure, wearing protective clothes and using high SPF sunscreen can help prevent skin damage.  
  • Vision aids: Contact lenses, prescribed glasses, and other visual aids can help with the eyesight.  
  • Routine checkups: Regular checkups with concerned specialists such as dermatologist and ophthalmologist can help monitor and handle the associated health issues.  
  • Education: Raising awareness about albinism and its related issues can help lessen stigma and encourage inclusive environment.  
  • Support Groups: Connecting individuals who have albinism may help provide emotional support and help cope.   

Understanding albinism is important and necessary. It will help provide support and care for the people who are affected by albinism. Providing inclusivity, appropriate medical care and addressing the physical and mental impact of the condition, we can help the people with albinism live a happy and fulfilling life.  

FAQs 

Is albinism a disease?

Albinism results from abnormal functioning of certain systems, due to known causes with specific signs and symptoms. So, it is a disease. 

Although, it is NOT a communicable disease. 

What does albino mean?

The word albino comes from the Latin word “albus,” which means white. People with albinism are sometimes called albinos. “A person with albinism” is the preferred term. 

What is Autosomal recessive inheritance?

In all types of OCA and some types of OA, albinism is passed on in an autosomal recessive inheritance pattern. This means a child has to get 2 copies of the gene that causes albinism (1 from each parent) to have the condition. 

If both parents carry the gene, there’s a 1 in 4 chance that their child will have albinism and a 1 in 2 chance that their child will be a carrier. Carriers do not have albinism but can pass on the gene. 

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