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Transcript
Albinism
By Elizama Pons
•Albinism is when a living organism
doesn’t have the usual amount of
pigment or color.
•Albinism affects all races equally.
Albinism is an
inherited
problem by
the
imperfection in
one or more of
the genes
responsible for
directing the
eyes and skin
to make
melanin.
Treatment
Albinism is mostly a
recessively inherited disease
which means that you have
inherited two albinism genes
which causes the
development of the disease.
There are six genes that are
responsible for causing albinism:
•Tyrosinase gene
(TYR)
•OCA1 gene
•OCA2 gene
•OCA3 gene
•Tyrosinase-related
gene (TYR1)
•CHS1 gene
Ocular Albinismdoes not affect
the skin or hair
and affects only
the eyes. It is
caused by xlinked
chromosomal
inheritance and
occurs mostly in
boys.
The goal for treatment is to relieve
symptoms.
Treatment depends on the severity of the
disorder.
Treatment involves protecting the skin and
eyes from the sun.
To reduce sunburn a person with albinism
should use sunscreen and wear clothing
that covers up most of the body.
Sunscreen should have a high sun
protection factor (SPF)
Causes
Inability of the body to produce melanin
pigment.
Alteration in genes for the production of
melanin in the skin and eyes.
Lack of melanin in the eyes often results in
problems with vision.
Acknowledgements: Bronx Community College, National Science Foundation,
BCC and CCNY of CUNY, Harlem Children Society, Dr. Brennan, Dr. Sat,
Ms. McMahon , Bronx Health Sciences High School
Tyrosinase Protein
Tyrosinase is a copper-containing
enzyme present in plant and
animal tissues that catalyzes the
production of melanin and other
pigments from tyrosine by
oxidation, as in the blackening of
a peeled or sliced potato exposed
to air.
•Garrod first discovered albinism
in 1908. It is believed that
albinism has been part of Medical
literature since time literature was
put together.
•A large number of German and
Roman scholars, such as Plinius
Secundus the elder have noted
to describe albinism in their
earliest scriptures.
Symptoms/Signs
•White hair
•Pale skin
•Burning of skin if exposed to
sunlight
•Very far sighted or near sighted
•Constant, involuntary movement
of the eyeball
•Sensitive to light