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Albinism: How does it affect life of Albino People?

albinism

 

Albinism is a group of genetic disorders that lead to decreased or absent pigmentation of skin, hair or eyes in albino people. Melanin is the pigment responsible for determining the color of the skin, hair and eyes. It also has a role in the development of optic nerves, which is the reason why people suffering from albinism may have problems in the vision. It is estimated that almost 1 in every 70 individuals carry the genes associated with albinism. There certainly is no proper cure for albinism, though preventive measures might be taken in order to protect the skin and eyes.

Albinism:Why does it occur?
  • It is basically an inherited disorder that presents at birth.
  • A genetic defect is the primary cause that affects the production and distribution of melanin, thus giving rise to albinism.
  • This genetic defect can be inherited from the affected parents.
  • Based on the genetic mutation, various types of albinism may occur.
Types of albinism
  1. Oculocutaneous albinism (OCA) – It is the most common type.
  • Autosomal recessive inheritance
  • It occurs due to a mutation in one of seven genes (OCA1 to OCA7).
  • OCA leads to decreased pigmentation in the skin, hair and eyes, along with vision problems.
  1. Ocular albinism– This type is mainly limited to the eyes, leading to vision problems.
  • It is comparatively less common than OCA.
  • Type 1, is the most common form.
  • X-linked recessive inheritance.
  • Ocular albinism usually affects the males.
  1. Albinism related to rare hereditary syndromes  
  • Examples of disorders included in this type are :
  • Hermansky-Pudlak syndrome– It is a rare form of albinism most commonly seen in Puerto Rico. It includes a form of OCA but bleeding disorders like hemophilia, easy bruising and lung or bowel disorders are more common.
  • Chediak-Higashi syndrome– This is also rare variant of albinism due to defect in the CHS1/LYST genes. This too includes a form of OCA along with immunological and neurological abnormalities. The hair can appear silvery, and the skin can look slightly gray.
Albinism: How does it affect albino people?
  • The most recognizable feature is the presence of white hair and hypo- pigmentation skin.
  • Patches with complete loss of pigmentation might also be seen.
  • Albinism also hampers the vision of an affected individual, which includes the following :
  • Photophobia – excessive sensitivity to light
  • Strabismus- mal-alignment of eyes when looking at an object
  • Nystagmus- involuntary rapid movements of the eye
  • Impairment of vision or blindness
  • Astigmatism – abnormal curvature of the front surface of the eye or the lens
  • Abnormal retinal development
  • Misrouting of the optic nerve
  • Poor depth perception
Diagnosis
  • Proper evaluation of symptoms.
  • Genetic testing is undoubtedly the most accurate way to diagnose albinism.
  • Electroretinogram test is another method, in which the response of the light-sensitive cells in the eyes is assessed.
Treatment for albinism
  • There’s no certain cure. However, symptoms might be relieved by various methods, that include:
  • Use sunglasses- in order to protect the eyes from the harmful ultraviolet (UV) rays of the sun, as the affected skin is comparatively more sensitive.
  • Sunscreens and protective clothing- Both of these assure utmost protection of the skin from the UV rays.
  • It must be noted that after exposure to the sun, individuals affected with albinism might develop freckles, moles, lentigines (large spots similar to freckles), which is why it becomes all the more important to protect the skin.
  • People affected with albinism are also comparatively more prone to develop skin carcinoma.
  • Correct vision- Accurate prescription eyeglasses can be used for the same.
  • Surgical intervention – for the muscles of the eyes in order to correct abnormal eye movements.
Prevention
  • Genetic counseling can surely come at your rescue, if any of the family members are affected.
  • A genetic counselor can recommend you to get certain tests done beforehand, and can even help you understand the chances of your future generations getting affected by the same.

 

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