Albinism: Types, Definition, Causes, Diagnosis, and Treatment


Albinism: Everything there Is to Know

Albinism is defined as a rare group of genetic disorders. It causes the skin, hair, and eyes to have little or no color and it is associated with vision problems.

Types of Albinism

Albinism types are related to different gene defects. The main types are:

  • Oculocutaneous albinism (OCA): it affects the skin, hair, and eyes. This type is subdivided into: OCA1 (a defect in the tyrosinase enzyme). This type is also subclassified into OCA1a (due to an absence of melanin) and OCA1b (people with this type produce some melanin).
  • Oculocutaneous albinism2 (OCA2): this less severe form of albinism is due to a defect in the OCA2 gene which causes low melanin production. If a person has this type of albinism he or she may have light coloring and their hair may be blond, light, yellow, and even light brown. This type mostly occurs in people of African descent and Native Americans.
  • Oculocutaneous albinism 3 (OCA3): it mostly affects people with dark skin, particularly Black South Africans. It is due to a defect in the TYRP1 gene. People with this type of albinism have brown skin, reddish skin, reddish hair, and their eyes may be hazel or brown.
  • Oculocutaneous albinism 4 (OCA4): It is very similar to OCA2 and it mostly occurs in people of East Asian descent. It is due to a defect in the SLC45A2 protein which results in low production of melanin.
  • Hermansky-Pudlak syndrome: this rare form of albinism is due to a defect in one of 8 genes, and produces symptoms similar to OCA. It may also be accompanied by bowel, lung, and bleeding disorders.
  • Griscelli syndrome: it is extremely rare and is due to a defect in 1 of 3 genes. It is associated with immune and neurological problems.
  • Ocular albinism: it is the result of a gene mutation (on the X chromosome). It occurs almost exclusively in males and only affects the eyes (hair, skin and eye coloring is normal but the back of the eye, the retina, has no coloring).

Albinism: Causes

Albinism is caused by a defect in one of several genes. It may affect humans, animals and even plants. It is usually characterized by a kind of pale appearance. It is not contagious but inherited.

Albinism and the Production of Melanin

Albinism is a genetic condition, that is, people are born without the usual pigment in their bodies. This is due to the fact that the body is not able to produce a normal amount of melanin.

Melanin is a chemical responsible for eye, skin, and hair color. People with this condition have very pale skin and eyes and their hair is white.

In other words, melanin is a skin pigment. Melanin is made by melanocytes, which are special skin cells. Everyone has the same amount of these cells, but some people make more melanin than others.

Furthermore, melanin is integral to protect us from sunburn. Melanin is essential since it helps protect our skin from the sun. It protects it by causing skin to tan and not to burn. People with darker skin have more melanin and are less likely to be sunburnt than those with lighter skin.

Albinism Treatment

People with albinism can live their life like anyone else. They have the same lifespan and abilities. Albinism cannot becured”.

Apart from vision care, people with albinism have no other health problems. However, some symptoms can be relieved to prevent damage from the sun:

  • Always wear sunglasses outside to shield the eyes from UV rays.
  • Wear prescriptive eyeglasses if the person has vision problems.
  • Eye surgery may be necessary to correct abnormal eye movements.
  • Wear protective clothes and sunscreen in the skin.

Albinism and Eyesight

Albinism is generally associated with eye problems. People with albinism usually wear glasses or contact lenses. Usual problems include:

  • Nearsightedness,
  • Farsightedness,
  • Astigmatism,
  • Strabismus (crossed eyes)
  • Photophobia (sensitivity to light)
  • Nystagmus (involuntary rapid eye movements)

Surgery may be required occasionally. Generally, people with albinism are sensitive to light since the iris does not have enough color to protect the retina properly. Wearing sunglasses or tinted contact lenses can relieve sensitivity to the sun.

Albinism: What Kind of Sunscreen is Recommended?

Sunscreen is a must for people with albinism. The best options have to be labeled SPF (sun protection factor) of 20 to 30. This will prevent sunburn.

Sunscreen should be applied systematically. You can always visit your dermatologist to know the best options for you and the correct way to apply it.

However, there are some tips to follow, including:

  • Apply the sunscreen half an hour before going into the sun.
  • Avoid rubbing with towels or friction from your clothes since the protection will be removed.
  • Prefer Water Resistant sunscreen and, if you swim, reapply always.
  • Consider factors like consistency and smell before purchasing your sunscreen so you do not regret buying something you end up not using.
  • If you have acne, go for non-oily-based sunscreens. You may also try alcohol-based options and dry lotions to see what works best for you.

Albinism and Mental Health

People with albinism may suffer discrimination since this condition is usually misunderstood. As we mentioned before, there is no reason to say that someone with albinism cannot do well in school, or employment.

Appropriate help and support is necessary if a child or teenager with albinism is being discriminated against. Families and schools must include children with albinism and communities must make an effort to raise awareness if any type of bullying occurs.

Seek advice and support if you suffer any type of bullying or discrimination. Talk to a friend or find a support group near your house.

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