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Albinism – Causes and Symptoms of Albinism

Albinism is an inherited disease that has damaged one or more genes which are responsible to direct the skin and eyes to produce melanin (pigment). A child’s skin, hair and eyes may be colorless as there is no pigment formation. The inherited genes do not make the normal amounts needed for the development of the retina. Visual impairment is also seen due to lack of melanin in the development of the retina.

Statistics

  • In the United States of America, it is estimated that atleast 1 person out of 17,000 suffer from albinism.
  • Albinism affects people from all the races.

What causes Albinism?
The causes of albinism includes the following:

  • Genetic factor is the only cause for this disease.
  • Many genetic defects inhibits the production of melanin which is a pigment that gives color to the eyes, hair, skin and iris.
  • The defect is transmitted through families.

Types of Albinism
There are two types of albinism. They are:

  • Type-1 albinism is caused by the affect on the production of the pigment melanin.
  • Type-2 albinism occurs due to the defect in the ā€œPā€ gene.
  • People suffering with this condition have slight coloring at the time of birth.

Signs and Symptoms of Albinism
The symptoms of Albinism is as follows:
Changes in the Eye

  • Functional blindness
  • Sharpness in the vision is decrease
  • Lazy eye
  • Sensitive to glare or bright lights
  • Rapid and Irregular eye movement
  • Sensitivity to bright lights or glare
  • Wandering eyes
  • Extreme farsightedness or nearsightedness
  • Distortion of a viewed image

Changes in the skin

  • Increased susceptibility to skin cancer
  • Absence or Patches of the melanin pigment leaving the areas pale and yellowish in color
  • Moles with or without pigment
  • Large freckle-like spots
  • The ability to tan is high
  • Highly sensitive to sunburns

Changes in the Hair

  • Complete absence of pigment which results in white hair
  • The portion of the hair near the forehead turns white

Other Symptoms:

  • Breathing problems due to lung fibrosis
  • Nervous system disorders
  • Bleeding tendency
  • Increased susceptibility to infections
  • Problem with bowels
  • Deafness

Complete Albinism Symptoms

  • Strabismus (eyes not tracking properly).
  • Photo phobia (avoiding light due to discomfort).
  • Decreased visual acuity.
  • Functional blindness.
  • Rapid eye movements (nystagmus).

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