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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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what is albinism
What is Albinism?

An overview of the condition and how it is inherited

slide4

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

slide10

OCA1 OCA2 OCA3 OCA4

TyrpTrp1SLC45A2

slide12

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

slide13

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
Low Vision in Albinism

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

slide15

Common Ocular Featuresof Albinism

  • Reduction in iris & retinal pigment
  • Iris translucency
  • Foveal hypoplasia
  • Misrouting of optic nerves at chiasm
  • Nystagmus
  • Alternating strabismus
slide16

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%

slide18

Normal Retina

Fovea

Albino Retina

Missing

Fovea

slide20

Matt

Matt

examples of how we see
Examples of “How We See”
  • Lack of detail
  • Light sensitivity
  • Nystagmus
    • “My world doesn’t actually shake.”
  • Poor depth perception
what is noah
What is NOAH?

An introduction to the world’s largest charitable support organization serving the albinism community

noah s mission
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
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
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
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
Albinism in the Classroom

Special considerations for students with albinism in the mainstream classroom

classroom accommodations
Classroom Accommodations
  • Seating
  • Lighting & glare
  • Aids
    • High-tech
    • Low-tech
  • Materials for reading and writing
  • Testing accommodations
  • Large print
myths and misconceptions
Myths and Misconceptions

A look at some of the commonly held myths surrounding albinism

what is albinism really
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

For more information: