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