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Albinism - Symptoms & Treatment


Albinism, more technically hypomelanism or hypomelanosis, is a form of congenital hypopigmentary disorder, characterized by a lack of pigment in the eyes, skin and hair (or more rarely the eyes alone). Albinism affects people from all races. Most children with albinism are born to parents who have normal hair and eye color for their ethnic backgrounds. Albinism results when the body is unable to produce or distribute pigment, called melanin, because of one of several possible genetic defects. Albinism of just the eyes also occurs. This is called ocular albinism type 1 and can be inherited via either an X-linked or an autosomal recessive process. The two most common types of albinism are Oculocutaneous albinism and Ocular albinism. Most kids with albinism have blue eyes, and others have brownish eyes. In some cases of albinism, a kid's eyes might appear pink or reddish. Approximately one in 17,000 people have one of the types of albinism. Lack of melanin in development of the retina is the primary cause of visual impairment in albinism.

Albinism is a very serious disease that could end up in death. Often people do not recognize that they have albinism. If parents have had a child with albinism previously, there is a way to test in subsequent pregnancies to see if the fetus has albinism. The condition is known to affect mammals, fish, birds, reptiles, and amphibians. While the most common term for an organism affected by albinism is "albino", the word is sometimes used in a derogatory way towards people; more neutral terms are "albinistic" and "person with albinism". Hermansky-Pudlak syndrome is a single-gene disorder inherited in an autorecessive manner. It is a form of albinism associated with a bleeding disorder as well as lung and bowel diseases. The appearance of albinism may indicate the presence of other rare conditions that require special management. Extremely rare forms of albinism, such as albinos with Hermansky-Pudlak syndrome, can experience problems with bruising, bleeding, and susceptibility to diseases that affect the bowels and lungs.

Causes of Albinism

The common causes and risk factor's of Albinism include the following:

  • Albinism is caused by a flaw in one or more of the genes that are responsible for directing the eyes and skin to make melanin (pigment).
  • Most forms of albinism are the result of the biological inheritance of genetically recessive alleles passed from both parents of an individual, though some rare forms are inherited from only one parent.
  • A positive family history for albinism in a sibling or other relative.
  • Puerto Rican anscestry (this significantly increases the risk of an otherwise rare form of albinism known as Hermansky-Pudlak syndrome).

Symptoms of Albinism

Some symptoms related to Albinism are as follows:

  • Absence of pigment from the hair, skin, or iris of eyes.
  • Rapid eye movements ( nystagmus ).
  • Lighter than normal skin and hair.
  • Hearing loss.
  • Very high susceptibility to skin cancer.
  • Have a constant, involuntary movement of the eyeball called nystagmus.
  • Decreased vision due to foveal hypoplasia.
  • In some cases, functional blindness.

Treatment of Albinism

Here is list of the methods for treating Albinism:

  • Sunburn risk can be reduced by avoiding the sun, by using sunscreens and covering completely with clothing when exposed to sun.
  • Wear sunscreen with high SPF (sun protection factor).
  • Crossed eyes (strabismus) can be treated during infancy, using eye patches or medicine injections.
  • Surgery to correct certain eye problems, including crossed eyes or "lazy" eye.

 

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