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Albinism

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
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.
There are seven different types of OCA.
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- 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.
OCA5-7- 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? (Why does it stay in the population,
any selective advantages?)-- This may or may not be known!
The evolutionary advantages for Albinism are still generally unknown.

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_Bulletin__What_is
_Albinism.htm