Transcript Albinism - andoverhighanatomy

Albinism
the congenital absence of
pigmentation in the eyes and skin
and hair
By: Michelle Cederberg
http://img.metro.co.uk/i/pix/2009/08/albinosREU_450x300.jpg
Some facts about albinism
• It can effect plants, animals, and people
• Sometimes the eyes appear pink because of a
reflection the retinas
• Albinism is more prone to males
Cause of Albinism
Albinism is due to a defect in the "P" gene. This
results in little or no melanin pigment produced. In
most cases the mutated gene must be given from
both parents This affects the hypodermis layer of the
skin where the melanocytes are located.
http://www.maharshiclinic.com/images/hypodermis.gif
Types of Albinism
• Oculocutaneous albinism type one- mutation on the chromosome
11. Many with this gene have white skin and hair with blue eyes at birth and
can later begin producing melanin.
• Oculocutaneous albinism type two- mutation on the chromosome
15. Skin appears a little lighter than family members while the hair may be
yellow, auburn, ginger or red with blue-gray or tan eyes. This type is more
common in the Sub-Saharan Africans, African-Americans and Native
Americans.
• Oculocutaneous albinism type three- mutation on the
chromosome nine. Most common in black South Africans. The skin looks
reddish brown with ginger hair and hazel/brown eyes.
• Oculocutaneous albinism type four- mutation on the
chromosome five. Very rare and occurs in Asian descent. It shows
symptoms/signs of type two.
Types of Albinism (cont.)
• X-linked ocular albinism- mutation on the
x chromosome.
Occurs in males. Men with this albinism have developmental and
functional vision problems while the skin, hair, and eye color are all
normal.
• Hermansky-Pudlak syndrome- rare form of albinism due to a
mutation on one of eight genes. It shows the same signs/symptoms as
Oculocutaneous albinism but also may develop lung and bowel diseases
and bleeding disorders.
• Chediak-Higashi syndrome- rare form of albinism due to a
mutation in the LYST gene. Same symptoms/ signs as Oculocutaneous
albinism but people with this this syndrome have a defect among white
blood cells, resulting in a higher chance of getting infections.
Symptoms
• Little to no pigmentation in the hair and skin (ranging from white to
brown)
• Lack of pigment in eye (light blue to brown and occasionally pink and
purple eyes)
• Vision impairments such as irregular eye movements and astigmatism
• Light sensitivity to the point of discomfort
http://whisperywind.files.wordpress.com/2013/04/alb-model.jpg
http://intertwinedlove.files.wordpress.com/2010/04/4023509880c7746dba0yn5.jpg
Cure of Albinism
There is no known cure for albinism. However, extra measures can be taken to
momentarily relieve some of the symptoms. These include:
•
Wearing sun screen
•
Covering exposed body parts with long sleeves/pants
•
Covering the eyes when outside
Worst Case Scenario
Without extra measures being taken to protect the skin and eyes different
scenarios may happen such as:
•
Skin cancer
•
Sunburn
• Worsened eyesight
• Higher risk of melanoma
Works Cited
•
•
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http://www.nlm.nih.gov/medlineplus/ency/article/001479.htm
http://www.mayoclinic.com/health/albinism/
http://www.visionfortomorrow.org/albinism-faqs/