1. All About Albinism

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

4. 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

10. OCA OCA2 OCA OCA4
Tyr p Trp1 SLC45A2

12. 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 , tel. 1 (800) 789-9HPS

13. 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.

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

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

16. 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%

18. Normal Retina
Fovea
Albino Retina
Missing
Fovea

19. Someone with vision would not experience undue difficulty in recognising the faces of a group of people maybe 10 feet away. Someone with vision might struggle a bit.
But look carefully at the lady wearing the black T shirt. In the picture it is possible to see the word “Noah” on the T shirt. In the and pictures the writing is no more than a blur.

20. This picture shows a typical rural American street scene.
Matt
Matt
This picture shows a typical rural American street scene.
Apart from the signing there is very little difference between the and the versions of the scene.
If you know where you are going and don’t need to read the signs then, in my opinion, with care, legally blind vision is not as dangerous as it might appear.

21. Reading distance - 6 inches
As we have learned – the most difficult task for people with low vision is reading.
18 point text is OK for someone with vision. but text sizes below 12 point offer increasing difficulty. The pink area at the bottom of the slide is a 2 times magnification of the 8 and 6 point text lines. The bottom right pink area is a further 2 times magnification of what 6 and 8 point text looks like to someone with vision.
Reading small print has an easy fix – it just requires to be made bigger. i.e. Magnification.
Reading distance inches

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

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

24. 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

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

26. 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

27. 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

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

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

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

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

32. For more information:
The National Organization for Albinism & Hypopigmentation (NOAH)
PO Box 959
East Hampstead, NH Phone: (US and Canada) or
Fax: Web site: