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| Albinism (Albino) CAUSE SYMPTOMS TREATMENT |
Albinism is a hereditary disease rarely found where the body cannot form melanin.
People who suffer from albinism called albino.
THE CAUSE OF
Under normal circumstances, an amino acid called tyrosine is converted by the body into the pigment melanin (a substance's color).
Albinism occurs when the body is unable to produce or disseminate melanin due to several causes. Specifically, abnormalities in the metabolism of tyrosine lead to the failure of the formation of melanin so albinism.
Albinism can be passed down through several autosomal recessive pattern, that is, autosomal dominant or X-linked.
Other diseases associated with partial albinism or albinism is localized (loss of pigment in certain regions only):
# Waardenberg Syndrome (hair on the forehead are white or one or two slices do not have pigment)
# Chediak-Higashi Syndrome (diffuse pigmentation of the skin is reduced but not total)
# Multiple sclerosis tuberosa (there is a small white spots and is localized)
Hermansky-Pudlak Syndrome # (bleeding disorder accompanied by thorough albinism).
SYMPTOMS
Complete albinism occurs if no way is found of pigment in the hair, eyes and skin (also called albinism okulokutaneus without tyrosine), so her hair was white, his eyes and his skin pale pink.
Is the most severe type of albinism.
Sufferers have the hair, skin and eye iris is white, accompanied by disturbances of vision.
Sufferers also experience photophobia (fear of sunlight) and easy because the sun burns and can suffer skin cancer because it does not have the function of melanin protects the skin against the Sun.
Okuler albinism is a type of albinism that just strikes the eye.
Usually normal skin color and eye color are also still in the normal range, but examination of the retina show that retina has no pigment.
Complete albinism is usually accompanied by some of the following symptoms:
-the movement of the eyes very quickly (nistagmus)
-strabismus (squint)
-decreased vision acuity
-functional blindness.
DIAGNOSIS
The Diagnosis is based on symptoms and upheld results of physical examinations.
To strengthen the diagnosis can be made examination of the retina eye surgeons ole.
Elektroretinogram is an examination conducted to determine brain waves produced by the light in their eyes and could indicate the presence of abnormalities in the vision system of people with albinism okuler.
TREATMENT
The skin and eyes must be protected from sunlight.
Anti-UV spectacles bias relieve photophobia.
Risk of burns due to the Sun can be reduced by avoiding direct sunlight, using sunscreen or wear protective clothing.
We recommend that you use a sunscreen with an SPF (sun protection factor is high.
PREVENTION
Someone with a family history of albinism should do a genetic consultation so that his descendants no one suffer from albinism.
