Download Albinism Project - shsbiogeneticdisorders

The word “albinism”
refers to a group of inherited
conditions. People with albinism
have little or no pigment in their
eyes, skin, or hair. They have
inherited altered genes that do not
make the usual amounts of a
pigment called melanin.
Albinism is also known as Oculocutaneous albinism,
Ocular albinism and, Hermansky-Pudlak syndrome
The genes for OCA are located on “autosomal” chromosomes. Autosomes are
the chromosomes that contain genes for our general body characteristics,
contrasted to the sex chromosomes. We normally have two copies of these
chromosomes and the genes on them – one inherited from our father, the
other inherited from our mother. Neither of these gene copies is functional in
people with albinism. However, albinism is a “recessive trait”, so even if only
one of the two copies of the OCA gene is functional, a person can make
pigment, but will carry the albinism trait. Both parents must carry a defective
OCA gene to have a child with albinism. When both parents carry the defective
gene (and neither parent has albinism) there is a one in four chance at each
pregnancy that the baby will be born with albinism. This type of inheritance is
called “autosomal recessive” inheritance.
• In ocular albinism, only the eyes lack pigment.
People who have ocular albinism have generally
normal skin and hair color, although it is typically
lighter than either parent. Many even have a normal
eye appearance. Also, ocular albinism is generally
sex-linked, therefore
males are more
likely to be affected. Males are without
another X chromosome to mask recessive alleles on
the X they inherit.
• Other than that exception the disorder is equally
distributed throughout all people
• Albinism affects the eyes, hair, and skin tone. Since the
person with this disorder lacks melanin in there body
there hair and skin are very pale or even white. In
severe cases the person may have red eyes as well.
Because of this you can usually recognize when a person
has albinism.
• The most sever case of albinism is oculocutaneous
albinism which is when a person has white or pink hair,
skin, and iris color, as well as vision problems.
• A person with albinism may also experience crossed
eyes, light sensitivity, and rapid eye movements.
The statistics reflect that about one person in
seventeen thousand has a form of albinism.
Albinism does not usually affect lifespan
nor is it deadly. Hermansky-Pudlak
syndrome can, however, shorten lifespan
due to lung disease or bleeding problems
• Genetic testing offers the most accurate way
to diagnose albinism. Such testing is helpful if
you have a family history of albinism. It is also
useful for certain groups of people who are
known to get the disease.
• Your doctor may also diagnose the condition
based on the appearance of your skin, hair,
and eyes. An ophthalmologist should perform
a electroretinogram test, which can reveal
vision problems related to albinism.
The goal of treatment is to relieve symptoms.
• Reduce sunburn risk by avoiding the sun, using
sunscreen, and covering up with clothing
completely when in the sun.
• Sunscreen should have a very high SPF
• Sunglasses that will help light sensitivity
National Organization for Albinism and
Hypopigmentation -- www.albinism.org
International Albinism Center -www.med.umn.edu/ophthalmology/centers/al
binism/home.html
Hermansky-Pudlak Syndrome Network -www.hpsnetwork.org
• There is a belief that a person or animal with
albinism will become blind halfway through
life. This is NOT true.
• Albinism in fish is highly affected by the eggs
exposure to heavy metals.
• When people have eyes that appear red it is
not because the iris is red, it’s colorless. The
red is the blood vessels showing through
• In urban legend, the spot on the 7 up logo
comes from it’s albino inventor who had red
eyes
"NOAH — What Is Albinism?" NOAH — The
National Organization for Albinism and
Hypopigmentation. Web. 26 Jan. 2011.
<http://www.albinism.org/publications/what_i
s_albinism.html>.
"Albinism - Symptoms, Diagnosis, Treatment of
Albinism - NY Times Health Information."
Health News - The New York Times. Web. 26
Jan. 2011.
<http://health.nytimes.com/health/guides/dis
ease/albinism/overview.html>.
"Albinism Facts." Warts. Web. 26 Jan. 2011.
<http://www.warts.org/library/albinismfacts.htm>.