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All About Albinism

All About Albinism. What is Albinism?. An overview of the condition and how it is inherited. Albinism:. Congenital genetic abnormality of melanin synthesis in which the amount of melanin made by the melanocyte is reduced or absent. Always includes specific abnormalities of the eye

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All About Albinism

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  1. All About Albinism

  2. What is Albinism? An overview of the condition and how it is inherited

  3. Albinism: Congenital genetic abnormality of melanin synthesis in which the amount of melanin made by the melanocyte is reduced or absent. Always includes specific abnormalities of the eye Oculocutaneous albinism, OCA1- 4 Ocular albinism, OA1 Albinism plus other features, HPS1-N

  4. OCA1 OCA2 OCA3 OCA4 TyrpTrp1SLC45A2

  5. Other Types of Albinism HPS: a group of recessive genetic conditions with albinism (and associated visual impairment), platelet dysfunction, inflammatory bowel disease, and pulmonary fibrosis.  People with albinism and any of these other conditions, especially delayed clotting and easy bruising should be evaluated for HPS. Because HPS is more common in Puerto Rico, people with albinism of Puerto Rican ancestry should be screened for HPS. Contact the HPS Network Incorporated, One South Road, Oyster Bay, New York 11771-1905, tel. 1 (800) 789-9HPS

  6. Other Types of Albinism OA1: an X-linked form of albinism, primarily affecting the eyes, including the visual impairment common to all forms of albinism. Because it is X-linked, it affects mostly boys.

  7. Low Vision in Albinism A discussion of “how we see” and the nature of the visual impairment associated with albinism

  8. Common Ocular Featuresof Albinism • Reduction in iris & retinal pigment • Iris translucency • Foveal hypoplasia • Misrouting of optic nerves at chiasm • Nystagmus • Alternating strabismus

  9. Optic Misrouting in Albinism Optic pathways in humans Pigmented Albinism Nasal Nasal Temporal Temporal Uncrossed fibers Crossed fibers Uncrossed fibers Crossed fibers 45% 55% <10% >90%

  10. Normal Retina Fovea Albino Retina Missing Fovea

  11. Matt Matt

  12. Reading distance - 6 inches

  13. Examples of “How We See” • Lack of detail • Light sensitivity • Nystagmus • “My world doesn’t actually shake.” • Poor depth perception

  14. What is NOAH? An introduction to the world’s largest charitable support organization serving the albinism community

  15. NOAH’s Mission • To provide information and support to the albinism community • To encourage better diagnosis and management of albinism • To educate the public about albinism often combating myths and misconceptions

  16. Programs & Services • National conference • Mini conferences • Magazine • Website/web boards • Information bulletins • 800 number • Rapid Responder program • Family camps • Parent toolbox • Parent book

  17. Psychosocial Issues A brief look at the ways in which albinism not only affects the way a person sees but how he or she is seen by others

  18. Seeing and Being Seen • Self-esteem • “Stares, smirks & shout-outs” • Employment • Unique concerns in communities of color • Stigma of difference • Parenting a special needs child

  19. Albinism in the Classroom Special considerations for students with albinism in the mainstream classroom

  20. Classroom Accommodations • Seating • Lighting & glare • Aids • High-tech • Low-tech • Materials for reading and writing • Testing accommodations • Large print

  21. Myths and Misconceptions A look at some of the commonly held myths surrounding albinism

  22. What is Albinism REALLY? • Stigma of difference • Film and literature stereotypes • Common myths in western cultures • Albinism in other cultures

  23. The National Organization for Albinism & Hypopigmentation (NOAH) PO Box 959 East Hampstead, NH 03826-0959 Phone: 800 473-2310 (US and Canada) or 603 887-2310 Fax: 800-648-2310 Web site: www.albinism.org Email: info@albinism.org For more information:

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