ALBINISM

BIOCHEMISTRY
 WHAT IS ALBINISM?

❑ Albinism - is a group of inherited disorders that results in little or no

production of the pigment melanin, which determines the color of the skin,
hair and eyes. It is a rare genetic disorder that cause the skin, hair, or eyes to
have little or no color. Albinism is also associated with vision problems. The
type and amount of melanin that your body produces determine the color of
your skin, hair and eyes. Moreover, melanin plays a role in the development
of optic nerves, thus people with albinism have vision problems.
 HOW CAN A PERSON INHERIT
ALBINISM?
❑ Albinism is passed down (inherited) through families. People are born with
albinism when they inherit an albinism gene from their parents. Though their
health is rarely affected, but they have one mutated gene (recessive gene) and
one normal gene (dominant gene) for the condition. Two carriers have a 25%
chance of having an unaffected child with two normal genes (left), a 50% chance
of having an unaffected child who also is a carrier (middle), and a 25% chance
of having an affected child with two recessive genes (right).
OCULOCUTANEOUS
ALBINISM (OCA)

❑ It is the most common type of Albinism.

❑ Albinism OCA1, or oculocutaneous

type 1, is a type of genetic disease
caused by a genetic mutation. OCA1
affects the production of melanin in the
skin, hair, and eyes. These individuals
will have white skin, white hair, and
light eyes due to a complete absence
of pigment.
 CAUSES
01 02
❑ Genetic mutations that affect the ❑ According to Marcus Maia, et. al (2019),
production of a pigment called individuals with oculocutaneous albinism
melanin. There is a cell called the are unable to oxidize tyrosine into dopa
melanocyte that is responsible for through tyrosinase. This inability to
giving skin, hair, and eyes produce pigment causes pale
pigmentation. In albinism, the complexion, white or fair hair, and red
melanocytes are present, but genetic eyes, as light reflects blood vessels in the
mutations interfere with their pigment
retina, or greenish-blue or light brown
production or their ability to distribute
eyes, if there is pigment formation in the
it to keratinocytes, the major cell type
comprising the epidermis, or outer iris.
layer of the skin.
 CAUSES
Mutations in the TYR, OCA2, TYRP1, and SLC45A2 genes
03 are the main cause of oculocutaneous albinism.

04 Without pigment in the skin, you are more susceptible

to non-melanoma skin cancers in keratinocytes.
Albinos are particularly at risk for squamous cell
carcinoma, a cancer of the outermost layer of skin,
and basal cell carcinoma affecting deeper layers.
 TREATMENT
❑ Given that the condition is a genetic disorder,
albinism has no cure. Treatment focuses on
getting proper eye care and monitoring skin
for signs of abnormalities. In addition,
patients with albinism are advised to protect
themselves from the sun.
 OTHER TYPES OF
ALBINISM

Ocular albinism Hermansky-Pudlak

syndrome

Chediak-Higashi Griscelli syndrome

syndrome
 RISK FACTORS
01 The risk of this problem is higher in:

02 03

Children of parents who

People who have other family
have albinism
Children of parents who do not members with albinism
have albinism, but carry
the faulty genes that
cause it
 SYMPTOMS
Problems vary by type of albinism. Some types affect the skin, hair, and
eyes. Other types affect only the eyes or only the skin.

❑ Eye problems may be:

➢ Eyes that do not line up the right way and point in different directions
➢ Problems seeing
➢ Rapid, irregular eye movements
➢ Sensitivity to light

❑ Skin problems may be:

➢ Skin that is extremely light or white

➢ Frequent sunburns
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