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Albinism

Definition:
Albinism is a congenital condition that affects the pigmentation and color of the eyes and may also affect the skin and hair. Most patients with albinism have a very high degree of vision and are some of the best candidates for low vision care. The main visual consequences of albinism are photophobia (sensitivity to bright light and glare), blurred sight, and nystagmus (uncontrollable shaking of the eyes). There is no surgical or medical treatment to correct albinism but fortunately it is a stable condition that does not lead to total blindness.

The lack of pigment to the eyes causes the sensitivity to bright light and glare (photophobia). The severity of photophobia is dependent on the amount of pigment in the eyes.

Patients with albinism tend to have much visual strength. They generally have excellent color vision, peripheral (side) vision and night vision. Thus, they are often able to use their vision more effectively during the evening or on overcast days.

People with albinism may have pale pink skin and blond to white hair, but there are different types of albinism, and the amount of pigment varies. The irises of their eyes may be blue, violet, or even hazel in color.

Cause:
The cause of albinism is a mutation in one of several genes. Each of these genes provides the chemically coded instructions for making one of several proteins involved in the production of melanin. Melanin is produced by cells called melanocytes, which are found in your skin and eyes. A mutation may result in no melanin production at all or a significant decline in the amount of melanin.

In most types of albinism, a person must inherit two copies of a mutated gene - one from each parent - in order to have albinism. If a person has only one copy, then he or she won’t have the disorder.

Regardless of which gene mutation is present, vision impairment is a common characteristic with all types of albinism. These impairments are caused by irregular development of the nerve pathways from the eye to the brain and from abnormal development of the retina.

Characteristics:

  • Low Vision (visual acuity between 20/50 and 20/800)
  • Sensitivity to bright light and glare (photophobia)
  • Rhythmic, involuntary eye movements (nystagmus)
  • Absent or decreased pigment in the skin and eye and sensitivity to sunburn (ultraviolet light) that could lead to skin cancers or cataracts in later life
  • “Slowness to see” in infancy
  • Farsighted, nearsighted, often with astigmatism
  • Underdevelopment of the central retina
  • Decreased pigment in the retina
  • Inability of the eyes to work together
  • Misrouting of the nerve pathways from the retina to the brain
  • Light colored eyes ranging from lavender to hazel, with the majority being blue
  • Strabismus, with both vertical and horizontal deviations.

 


Sources:

www.afb.org
www.DrBillFoundation.org
www.familyconnect.org/eyeconditions.asp
http://blindbabies.typepad.com/
Haefemeyer, J. (1997). Visual Problems in Albinism, NOAH News, Winter.
Haefemeyer, J., Kind, R., LeRoy, B. (1992). Facts About Albinism

 

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