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 Oculocutaneous albinism, OCA1- 4 Ocular albinism, OA1 Albinism plus other features, HPS1-N

OCA1 OCA2 OCA3 OCA4 Tyr p Trp1 SLC45A2

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

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.

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

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

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%

Normal Retina Fovea Albino Retina Missing Fovea

Someone with 20 200 vision would not experience undue difficulty in recognising the faces of a group of people maybe 10 feet away. Someone with 20 400 vision might struggle a bit. But look carefully at the lady wearing the black T shirt. In the 20 20 picture it is possible to see the word “Noah” on the T shirt. In the 20 200 and 20 400 pictures the writing is no more than a blur.

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 20 30 and the 20 200 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 20 200 vision is not as dangerous as it might appear.

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 20 200 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 20 200 vision. Reading small print has an easy fix – it just requires to be made bigger. i.e. Magnification. Reading distance - 6 inches

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

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

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

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

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

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

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

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

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

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

For more information: 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