Page 32 - Mangwanani Magazine - June2017

INTERNATIONAL ALBINISM
Types of Albinism
Oculocutaneous Albinism (OCA)
OCA affects the skin, hair, and eyes.
Ocular Albinism (OA)
OA is the result of a gene mutation on the X chromosome and occurs
almost exclusively in males. This type of Albinism only affects the eyes. parents who carry the gene for Albinism.
People with OA have normal hair, skin, and eye colouring, but have no
colouring in the retina (the back of the eye).
Hermansky-Pudlak Syndrome (HPS)
HPS is a rare form of Albinism that is due to a defect in one of eight
genes. It produces symptoms similar to OCA, and occurs with lung,
bowel, and bleeding disorders.
Chediak-Higashi Syndrome
Chediak-Higashi syndrome is another rare form of Albinism that is the
result of a defect in the LYST gene. It produces symptoms similar to
OCA, but may not affect all areas of the skin.
Griscelli Syndrome (GS)
GS is an extremely rare genetic disorder. It’s due to a defect in one of
three genes. There only have been 60 known cases of GS worldwide
since 1978. GS occurs with Albinism (but may not affect the entire body),
immune problems, and neurological problems. GS usually results in
death within the first decade of life.
Causes of Albinism?
A defect in one of several genes that produce or distribute melanin
causes Albinism. The defect may result in the absence of melanin
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AWARENESS DAY 13 JUNE
What Is
Albinism?
Albinism is a rare group of
genetic disorders that cause the
skin, hair, or eyes to have little or
no colour. Albinism is also
associated with vision problems.
production, or a reduced amount of melanin production. The defective
gene passes down from both parents to the child and causes Albinism.
Who Is at Risk for Albinism?
Albinism is an inherited disorder that’s present at birth. Children are at
risk of being born with Albinism if they have parents with Albinism, or
Symptoms of Albinism
People with Albinism will have the following symptoms:
Ÿ an absence of colour in the hair, skin, or eyes
Ÿ lighter than normal colouring of the hair, skin, or eyes
Ÿ patches of skin that have an absence of colour
Albinism occurs with vision problems, which may include:
Ÿ strabismus (crossed eyes)
Ÿ photophobia (sensitivity to light)
Ÿ nystagmus (involuntary rapid eye movements)
Ÿ impaired vision or blindness
Ÿ astigmatism
What Are the Treatments for Albinism?
There is no cure for Albinism. Treatment for Albinism can relieve
symptoms and prevent sun damage. Treatment may include:
Ÿ sunglasses to protect the eyes from UV rays
Ÿ protective clothing and sunscreen to protect the skin from UV rays
Ÿ prescription eyeglasses to correct vision problems
Ÿ surgery on the muscles of the eyes to correct abnormal eye
movements