Albinism

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Albinism
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History
Balthazar Telez coined the term "albino, meaning
white Negro, when he saw white African tribe
members along the coast of West Africa. He and
the other explorers thought they were seeing two
different races of people
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What is a genetic disease?
A genetic disease is a disease in which a certain
chromosome or gene is altered or mutated. Genetic
diseases are usually recessive.
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Description
Albinism is a group of genetic conditions that
causes a lack of pigment. It can effect only the
eyes or both the eyes and skin. Most types of
albinism are inherited when an individual
receives the albinism gene from both parents. The
exception is one type of ocular albinism, which
is passed on from mothers to their sons.
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Detection
Detected at birth because of irregular
pigmentation
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When can it first appear?
Albinism can first appear at birth because it is
a physical deformity that never changes.
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Symptoms

• Absence of pigment from the hair, skin, or iris
  of eyes
• Patchy absence of pigment including in the
  carrier-mothers of affected boys with X-linked
  recessive albinism
• Lighter than normal skin and hair or complete
  albinism
• Most forms of complete albinism have some of the
  following possible symptoms
• Rapid eye movements
• Strabismus (eyes not tracking properly)
• Photophobia (avoidance of light because of
  discomfort)
• Decreased visual acuity
• Functional blindness

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Causes
Albinism is caused by an alteration of the gene
that makes the melanin pigment.
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Alternate names
Hypopigmentation, Ocular Albinism, Oculocutaneous
Albinism
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Prevalence
Approximately one in 17,000 people have one of
the types of albinism. About 18,000 people in the
United States are affected.
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Diagnosis
The most accurate way to determine albinism and
the specific type is genetic testing.
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Treatment
The skin and eyes must be protected from the sun.
Sunglasses (UV protected) may relieve photophobia.
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Prognosis
Albinism does not affect the expected lifespan.
Activities may be limited by intolerance to the
sun.
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Complications

• Skin cancer
• Decreased vision, blindness

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Bibliogaphy
Bibliography
http//www.zebracorn.com/history.htm http//www.al
binism.org/faq/report.html http//www.cbc.umn.edu/
iac/facts.htm http//health.allrefer.com/health/al
binism-info.html www.plymouth.gov.uk/images/
albino-form.jpg www.gherp.com/.../
monacle20cobra,20albino.jpg http//www.lunaeter
na.net/popcult/film.htm