Albinism

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Albinism refers to a group of inherited conditions under which people have little or no pigment in their eyes, skin, or hair. They have inherited altered genes that do not make the usual amounts of a pigment called melanin. Although some individuals with albinism have reddish or violet eyes, most have blue eyes. Some have hazel or brown eyes. However, all forms of albinism are associated with vision problems.

Albinism affects animals as well as humans. Individuals and animals affected by albinism are known as albinos.

Contents

Why should I be aware of this?

  • Albinism affects people from all races.
  • Till date there is no known cure for Albinism, but it can be controlled and kept under check with the help of simple measures that involve prescription eye wear and avoiding the exposure of sun.
  • The disorder however does not affect the individual's intellectual capability, metal growth or physical development.

All about Albinism

In Albinism the body is unable to make the usual amounts of a pigment called melanin as a result of the altered gene. Lack this protective pigment easily burns their skin on exposure to the sun. Amongst albinism patients vision deficiencies can be in the form of accelerated, non-voluntary to and fro motion of the eyes, lack of ability of both the eyes to remain focused at one point or move together simultaneously, extreme form of myopia or or super sensitivity towards light.

Individuals with albinism often have white hair and pale skin which makes them stand out from their families and friends, and from other members of their ethnic group. This can lead to social problems. Growth and development of children with albinism should be normal, however, as should their general health, life span, intelligence, and ability to have children.

Classification

There are two main types of albinism: Oculocutaneous Albinism (OCA), where melanin pigment is missing in the skin, hair and eyes, and Ocular Albinism (OA), where the melanin pigment is mainly missing from the eyes, and the skin and hair appear normal. OCA is more common than OA.

Oculocutaneous albinism is the most severe form of albinism. Affected persons have white or pink hair, skin, and iris color, as well as vision problems.

Albinism type 1 (OA1) is another type of Albinism, which affects only the eyes and the skin and eye colors remain in the normal range.

Hermansky-Pudlak syndrome (HPS) is a form of Albinism caused by a single gene. It can occur with a bleeding disorder, as well as with lung and bowel diseases.

Symptoms

The following symptoms can be found in a person with Albinism:

  • Absence of coloring from the hair, skin, or iris of the eye
  • Lighter than normal skin and hair
  • Patchy, missing skin color
  • Crossed eyes (strabismus)
  • Light sensitivity (photophobia)
  • Rapid eye movements (nystagmus)
  • Vision problems, even functional blindness

Genetics

For OCA, an individual must inherit an altered albinism gene from both parents. Where an individual receives one albinism gene and one normal gene, that person will not show outward signs of the condition, but will become a carrier. Where two carriers have a child together, that child will have a one in four chance of getting two albinism genes and having albinism. The child will have one in four chances of getting neither albinism gene, having normal pigment, and not being a carrier.

What can I do?

  • If you have a family history of Albinism, it is advisable to go for genetic testing which offers the most accurate way to diagnose Albinism and its type. Such testing is helpful, and is also useful for certain populations known to get the disease.
  • Consult your doctor. He may also diagnose the condition based on the appearance of your skin, hair, and eyes. An electroretinogram test can reveal vision problems related to Albinism.

Treatment

Treatment depends on the severity of the disorder and involves protecting the skin and eyes from the sun:

  • Reduce sunburn risk by avoiding the sun, using sunscreen, and covering up completely with clothing when exposed to the sun.
  • Sunscreen should have a high sun protection factor (SPF).
  • Sunglasses (UV protected) may relieve light sensitivity.

CopperBytes

  • About one out of every 17,000 people suffers from albinism.
  • Most sufferers have normal parents, and no family history of albinism.
  • Albinism does not cause any mental or medical problems except for increased susceptibility to skin cancer, which is usually mild and curable.
  • Proximity to the equator and altitude effect UV intensity. Every 1000 foot increase in altitude increases UV exposure by about 4%.
  • Well over 90% of UV rays penetrate clear water.
  • Clothing can help decrease UV exposure, but if the clothes are wet, they may not be as effective. Light colored or lightly woven cloth is less effective then dark colors and thick cloth.

References:

  • Albinism - Skin Disorder and Compromised Eyesight
  • What is Albinism?
  • Medical Encyclopedia
  • Albinism - All Information