Albinism

Peyton Korte and Sam Carner

How does a person inherit the disease? Is it
dominant, recessive, sex-linked or unknown?
There are two main forms of Albinism, oculocutaneous albinism (OCA) or
ocular albinism (OC). Both of these types are sex-linked. Albinism occurs
when both the dad and mom have the dominant gene, but they both have
normal pigmented skin. This leds to a 1 in 4 chance the offspring will have
albinism. Ocular albinism is generally only found in males.
If the disease is a chromosome abnormality,
describe it.
The most common form of Albinism is in eyes and is known as
oculocutaneous albinism OCA. The genes for OCA are found in the autosomal
chromosome. The autosomal chromosome had 22 pairs and are responsible
for the formation of basic body charastics. Albinism generally affects the X
chromosomes and that is why it is more common in males and no females.
How prevalent is the disease in the global
population?
Albinism can occur to anyone. In the U.S. there are about 18,000-20,000
people who have inherited the OCA form of Albinism.

In some countries one in every three thousands people could have it

Generally 1 in every 50,000-150,000 people have OCA

How is the disease diagnosed?
The disease usually easy to diagnose through a physical exam or an eye exam.
Sometimes more in depth test are need to be done for a thorough diagnosis.
What are the symptoms of the disease?
People with any type of albinism have often have extremely pale skin and
discolored eyes. Because of this Albino people are more likely to have skin
cancer and a lot of people have severe vision problems due to lack of melanin,
a pigment protein.
OCA1-
It is caused by the defect of the enzyme tyrosinase. Tyrosinase helps convert
tyrosine into a pigment, helping create melanin. OCA1A is when tyrosinase is
completely inactive, leaving a person with white hair and extremely light skin.
OCA1B is when tyrosinase is hardly active, making a person hair a light blond
or a yellow or orange and the skin is slightly more pigmented.
OCA2
This is the most common type. Is caused through a defect to the P protein in
the enzyme tyrosinase. The P protein helps the tyrosinase function, without it
it can led a lack in the production leading to melanin. People with OCA2 often
have light colored skin but their hair color can range from very light to a
brown.
OCA3
This type is extremely rare and occurs because the TYRP1 is affected. TYRP1 is
a protein that provides instructions for making an enzyme called
tyrosinase-related protein 1.This enzyme is located in melanocytes, which are
specialized cells that produce a pigment called melanin. When this is effecetd
people have blond to red hair, and their skin is very fair.
OCA4
This is caused by the a defect in SLC45A2. The exact function of SLC45A2
unknown, but we do know that it provides instructions for making a protein
that is located in specialized cells called melanocytes. This can led to a person
have little pigment in their hair and skin, similar to OCA2.
OCA 5-7
These types are less common and there is currently not a lot of information
on them. Although we do know that OCA5 affects chromosome 4q24 and is
more common in pakistan. OCA6 is a mutation in SLC24A5 and is generally
found in the Chinese culture. And OCA7 affects the C10orf11 but is hardly ever
found.
There are two different types of OC.
OC Type1
This is type of albinism is an X-linked recessive trait, meaning it can only occur
in males. It affects the gene GPR143, the affected gene controls the
melanosome transport in pigment cells. The main effect of OC1 is that the
people have severe vision problems and a more long term effect is that they
could have late-onset sensorineural deafness.
OC Type2
OC2 is extremely rare and it is also is a X-linked trait. On top of everything that
OC1 patients have, OC2 patients can have stationary night blindness.
What is the life expectancy?
Same as a person who doesn't have it, however there is a high risk to skin
cancer. 78.74years (america)
*How can the disease be treated?
To help with vision problems, prescription lens are most likely needed. Yearly
exams with an eye doctor are recommended. If skin problems a occur, normal
treatment can be used. Consouling has been recommended also, to help cope
with the disease.
What limitations does the person have?
The only real limitation a person will have is that they should avoid the sun.
Since their body doesnt produce melanin they are highly likely to get skin
cancer. Which when untreated skin cancer can lead to other cancers or other
complications and death.
What are some organizations that can help a
family cope with a child's disorder?
The only main reason someone with albinism would need coping is if they get
bullied for their albinism. For this they can join the NOAH (National
Organization for Albinism and Hypopigmentation) or seek mental health
professionals.
How is the disease linked with the concept of
evolution?
The evolutionary advantages for Albinism are still generally unknown.
Bibliography
http://www.mayoclinic.org/diseases-conditions/albinism/basics/coping-support/con
-20029935

http://eyewiki.aao.org/Albinism#OA_Type_1

https://aapos.org/terms/conditions/12

http://www.albinism.org/site/c.flKYIdOUIhJ4H/b.9253761/k.24EE/Information_Bull
etin__What_is_Albinism.htm