Albinism short facts
• genetic disorders with hypopigmentation of the eye, skin and hair
• 2 types (oculocutaneous type) or the eye only (ocular type).
• The oculocutaneous type is inherited in
an autosomal recessive fashion, and the ocular type in an X-linked fashion.
• Patients with pigment production (tyrosine-positive type) tend to have better vision.
• Visual evoked potential is abnormal and there is increased decussation of the optic nerve.
• 2 syndromes have been described for oculocutaneous albinism :
1. Chediak-Higashi syndrome:
recurrent pyogenic infection
bleeding diathesis
2. Hermansky-Pudlak syndrome:
bleeding diatheses
pulmonary fibrosis
inflammatory bowel disease
renal failure and
cardiomyopathy
The bleeding diathesis in Hermansky- Pudlak syndrome is due to abnormal aggregation of platelets.
Albinism short facts power point presentations:
Albinism
1. ALBINISM
2. CONTENTS • What is Albinism? • What causes it? • What are the problems associated with it? • Types of Albinism • What are the treatment options for albinism? • Animals and plants with albinism • Albinism in Tanzania ? ? ? ?
3. What’s ALBINISM? • Latin Albus = “White” • Little or no melanin pigment • Humans,animals and plants can have Albinism • 1 in every 20.000 people
4. • have white or very light blonde hair • sometimes brown or ginger hair • very pale skin
5. What causes it? • inherited genetic condition • passed down by both parents • one or more defective genes
6. • one in four chance albinism + • one in two chance carrier + • one in four chance albinism – / carrier –
7. What are the problems associated with it? • Two main problems 1.Skin Problems 2.Eye Problems
8. • They have very fair skin which is prone to burn easily in the sun. • at higher than average risk of skin cancer • no natural protection against the sun SKIN PROBLEMS
9. EYE PROBLEMS • very pale blue or grey eyes • vision is impaired • photophobia sensitivity to light • Nystagmus involuntary, rhythmic eye movements • Squint where the eyes point in different directions
10. TYPES OF ALBINISM • two main categories of albinism 1. Ocular albinism 2. Oculocutaneous
11. 1. OCULAR ALBINISM • eyes lack melanin pigment • skin and hair appear normal or only slightly lighter • accounts for 10 to 15 percent of all albinism cases
12. 2. Oculocutaneous Albinism (OCA) • most common form of albinism • dilution of the color of the hair, skin, and eyes • 4 main subtypes A. OCA1 B. OCA2 C. OCA3 D. OCA4
13. OCA1 • white hair • very pale skin • light-colored irises
14. OCA2 • minimal amount of melanin pigment • less severe • skin creamy white color • hair may be light yellow, blond, or light brown
15. OCA3 • usually affects dark-skinned people • reddish-brown skin • ginger or red hair • hazel or brown irises
16. OCA4 • similar symptoms to OCA2 • light skin • yellow, blond or light brown hair • occurs frequently in the Japanese and Korean populations
17. TREATMENT • no cure for albinism • only ease the symptoms • wear protective clothing, hats and eyewear • use sunscreen • Glasses • Eye muscle surgery
18. SOME ANIMALS AND PLANTS WITH ALBINISM
19. Albinism in Tanzania • 1 in 1,400 people being affected • killed by attackers for their body parts • bring good luck
20. • The government is building shelters for people with Albinism • They are trying to stop the attackers
Albinism short facts Videos:
What is Albinism? – YouTube
Albinism short facts
