Albinism

What is Albinism?
It also called achromia, achromasia, or
achromatosis
Its an genetic disorders that can by
inherited are characterized by little or no
production of the pigment melanin which
determines the color of your skin, hair
and eyes.
Individual with complete absence of
melanin is called an albino. One with only
a small amount of melanin is described as
albinoid

Causes
There are two types of Albinism
Oculocutaneous albinism (OCA) that includes (OCA 1, OCA 2,
OCA 3) which affects the eyes, skin and hair
Ocular albinism that affect the eyes only.
they are caused by a defect in one of several genes that
produce tyrosinase enzyme which is responsible for melanin
biosynthesis in body .

(OCA 1) is caused
(OCA 2) is caused
(OCA 3) is caused
Ocular albinism is
chromosome.

by a gene on chromosome 11
by a gene on chromosome 15
by a gene on chromosome 9
caused by a gene on the X (female)

This hereditary disease can be found in humans

,mammals, birds, fish and other species.

How rare is it?

its a rare disease as a research indicates that

OCA 1 occurs in (1 individual per 40,000 populations)

OCA 2 occurs in( 1 individual per 15,000) ,
ocular albinism in (1 individual per 50,000
population)
Research has not yet found how often OCA 3

occurs.

Symptoms

Eye
Absence of eye color
vision problems due toabnormal patterns of
nerve connections between the eye and the
brain, which may include:
strabismus (crossed eyes)
photophobia (sensitivity to light)
nystagmus (involuntary rapid eye
movements) ,
impaired vision or blindness
Astigmatism, which causes blurred vision

skin

o Absence of hair and skin color

o Large freckle-like spots
o people with albinism are sensitive to
sun exposure and are at increased risk
of developing skin cancer As Melanin
protects against UV rays.

Diagnosis
The most accurate way to diagnose
albinism is through genetic testing to
detect defective genes related to
albinism. Less accurate ways of
detecting albinism include an
evaluation of symptoms by doctor
or an electroretinogram test (that
measures the response of the lightsensitive cells in the eyes) to reveal
problems with your eyes associated
with albinism.

Treatment
There is no cure for albinism. Treatment for
albinism is provided to relieve symptoms and
to prevent sun damage.
sunglasses to protect the eyes from UV rays
protective clothing and sunscreen to protect the

skin from UV rays

prescription eyeglasses to correct vision problems
Surgery may be required on the ocular muscles to

decrease some of the vision problems

References
www.wikipedia.com
www.healthline.com
www.medicalnewstoday.com
www.rarediseases.org

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