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Albinism
al-buh-nih-zum
Developed by Mona L. Bell
Definition: A group of genetic disorders in which there is partial or total lack of the
pigment melanin in the eyes, skin, and hair in a vertebrate.
(from Latin root word: albus, "white"; also called achromia, achromasia, or achromatosis )
Sometimes, a child might be born whose body can't make a
normal amount of melanin (mel-uh-nin), which is a chemical in
our bodies that colors our skin, eyes, and hair. Melanin is made by
melanocytes (muh-lah-nuh-sytes), which are cells found in
the bottom layer of our skin. Individuals with albinism disorders
may lack pigment (color) in their skin, eyes, and hair. The most
common term used for a person affected by albinism is "albino". Most children with
albinism have blue eyes, and others have brownish eyes. In some cases
of albinism, a kid's eyes might appear pink or reddish. This isn't because
the iris (the colored part of the eye) is pink or red. It's because the iris
actually has very little color. The eyes appear pink or red because the
blood vessels inside of the eye (on the retina) show through the iris.
Albinism Cause
Although albinism can be assumed, based
0ne’s appearance or family history of the
disorder, a complete
medical eye exam on
by an eye doctor, a
general
physical
exam and a genetic
evaluation
(an
investigation of the
family history) can
help diagnose and
define the type of
albinism.
In general, albinism stems from a person's
genes which carry information that makes
us unique and gives us our physical traits
that determine what we look like and
much more. All of us have two sets of
genes, one from our father and the other
from our mother. Each parent has a
normal pigment gene and an albinism
gene. Regardless of whether the parents
have signs of the disorder or not, a child
can have albinism, if the father's albinism
gene and the mother's albinism gene are
both passed on to the child.
Albinism Challenges
Some children with albinism might have
pale skin or hair. Patchy or lack of skin
pigmentation makes the child more
susceptible to sunburn and skin cancers.
It is possible for albinism to only affect the
eyes, which is associated with a number of
vision defects, such as photophobia (light
sensitivity, strabismus (crossed eyes),
astigmatism (a problem with the curve of the
cornea), nystagmus (rapid eye movement),
and functional blindness. The eyes of
children with albinism can be very
sensitive to light. They often squint in
bright light, because the iris doesn't have
enough color and can't properly shield the
retina from light. In some rare types of
albinism, affected individuals can have
bleeding
problems
or
increased
susceptibility to infections, especially
during childhood. Early diagnosis is
important for proper treatment of these
problems.
1.
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4.
Albinism Categories
The most severe category of albinism
is called oculocutaneous albinism.
People with this type of albinism have
white or pink hair, skin, and iris color,
as well as vision problems.
Another category of albism, called
ocular albinism type 1 (OA1), affects
only the eyes. The person's skin and
eye colors are usually in the normal
range. However, an eye exam will
show that there is no coloring in the
back of the eye (retina).
Hermansky-Pudlak syndrome (HPS) is a
form of albinism caused by a single
gene. It can occur with a bleeding
disorder, as well as with lung and
bowel diseases.
Other complex diseases may lead to
loss of coloring in only a certain area
(localized albinism). These conditions
include:

Chediak-Higashi syndrome (lack of
Albinism Cure
Albinism does not usually affect lifespan.
However, it is a lifelong condition.
Although there is no cure for poor or total
lack of pigment production or a treatment
method
to
correct
early
poor
development of central vision, proper eye
evaluation
and
management
can
beneficial.
The good news is: eye
misalignment can be treated. While its
objective is to relieve symptoms,
treatment depends on the severity of the
disorder.
Wearing sunglasses, wraparound sunglasses with ultraviolet filters,
or tinted contact lenses can help make a
child with albinism more comfortable out
in the sun. An eye doctor can assist with
determining if a child with albinism needs
surgery or to wear glasses or contact
lenses to improve their sight. Magnifying
glasses for reading and low vision aids for
distance vision can also be helpful. A wide
brimmed hat, tight knit clothing, and
sunscreen can help protect sensitive skin
from the sun.
Most kids with
albinism can
be anything
they want to
be,… just like
any other kid!
Additional References:
http://upload.wikimedia.org/wikipedia/commons/thumb/9/9a/Albinisitic_man_por
trait.jpg/220px-thumb.jpg
http://www.squidoo.com/albino-animals
http://kidshealth.org/kid/health_problems/skin/albinism.html
www.medterms.com/
coloring all over the skin, but not complete)


Tuberous sclerosis (small areas without
http://www.webmd.com/parenting/tips-for-parents-visually-impaired-children
skin coloring )
http://www.uveitis.org/kids/EYE-brary/article5.htm
Waardenburg syndrome (often a lock of
http://www.albinism.org
hair that grows on the forehead, or no
coloring in one or both irises)