Albinism

By

Johannes
Chiedza
 Mutakati
Kahombe

Tinotenda Larry
Murape Magwegwe

Nursing Group 22 & 23

 Discovery
Of Albinism
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.
Introduction

Albinism is a genetic inherited condition that

leads to someone having very light skin, hair, and
eyes.
Albinism affects all races equally.
What causes Albinism?
 Several genes give instructions for making one of several
proteins involved in producing melanin. Melanin is made
by cells called melanocytes that are found in your skin,
hair and eyes.
 Albinism is caused by a change in one of these genes.
Different types of albinism can occur, based mainly on
which gene change caused the disorder. The gene change
may result in no melanin at all or a big decrease in the
amount of melanin.

 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.
Genetic Aspect

Albinism is an Albinism is mostly a

inherited condition by the  recessively inherited
imperfection in one or disease  which means that
more of the genes  you have inherited
rresponsible for directing two albinism genes which
the eyes and skin to  make causes the development
melanin. of the disease.
 Genes Responsible For Albinism
There are six genes that are responsible for causing
albinism:
•Tyrosinase gene (TYR)
•OCA1 gene
•OCA2 gene
•OCA3 gene
•Tyrosine-Related gene (TYR1)
•CHS1 gene
Chromosome Location

Albinismis located on
chromosome11q14-21.
The gene associated with
albinism is called
 OCA1 which codes for the
protein tyrosinase.
Tyrosinase Protein
is an enzyme that catalyzes the oxidation of 
phenols (such as tyrosinase) and is widespread
in  plants and animals.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.
 Types of Albinism
Types of albinism are grouped based on how they're passed
down in families and on the gene that is affected.

• Oculocutaneous albinism (OCA), the most common type,

means a person gets two copies of a changed gene — one
from each parent. This is called autosomal recessive
inheritance. OCA is the result of a change in one of eight
genes, labeled from OCA1 to OCA8. OCA causes decreased
pigment in the skin, hair and eyes, as well as vision problems.

•  Ocular albinism is mainly limited to the eyes, causing vision

problems. The most common form of ocular albinism is type
1. This type is passed down by a gene change on the X
chromosome. X-linked ocular albinism can be passed on by a
mother who carries one changed X gene to her son. This is
called X-linked recessive inheritance. Ocular albinism usually
occurs only in males. 

• Albinism related to rare hereditary syndromes can occur.

For example, Hermansky-Pudlak syndrome includes a form
of OCA, as well as bleeding and bruising problems and lung
and bowel diseases. C
Symptoms of Albinism
Symptoms of albinism involve skin, hair and eye color, as well as
vision:
Skin
The easiest form of albinism to see results in white hair and very
light-colored skin compared with siblings or other blood relatives.
Hair
Hair color can range from very white to brown. People of African or
Asian descent who have albinism may have hair color that's yellow,
red or brown. 
Eye color
Eyelashes and eyebrows are often pale. Eye color can range from
very light blue to brown and may change with age. 
Vision
Vision problems are a key feature of all types of albinism. Eye
problems may include:
• Rapid, back-and-forth movement of the eyes that can't be
controlled, called nystagmus.
• Problems seeing near objects or far objects, called farsightedness
or nearsightedness.
• Extreme sensitivity to light, called photophobia.
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