Transcript All About Albinism Presentation

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An overview of the condition and how it is inherited
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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
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OCA1
Tyr
OCA2
p
OCA3
Trp1
OCA4
SLC45A2
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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
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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 Xlinked, it affects
mostly boys.
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A discussion of “how we see” and the nature of the visual impairment
associated with albinism
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Common Ocular Features
of Albinism
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Reduction in iris & retinal pigment
Iris translucency
Foveal hypoplasia
Misrouting of optic nerves at chiasm
Nystagmus
Alternating strabismus
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Optic Misrouting in
Albinism
Optic pathways in humans
Pigmented
Albinism
Nasal
Temporal
Nasal
Temporal
Uncrossed Crossed
fibers
fibers
Uncrossed Crossed
fibers
fibers
45%
<10%
55%
>90%
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Normal Retina
Fovea
Albino Retina
Missing
Fovea
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Matt
Matt
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Reading distance - 6 inches
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Lack of detail
Light sensitivity
Nystagmus
 “My world doesn’t actually shake.”
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Poor depth perception
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An introduction to the world’s largest charitable support organization
serving the albinism community
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 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
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National conference
Mini conferences
Magazine
Website/web boards
Information bulletins
800 number
Rapid Responder program
Family camps
Parent toolbox
Parent book
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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
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Self-esteem
“Stares, smirks & shout-outs”
Employment
Unique concerns in communities of color
Stigma of difference
Parenting a special needs child
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Special considerations for students with albinism in the mainstream
classroom
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Seating
Lighting & glare
Aids
 High-tech
 Low-tech
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Materials for reading and writing
Testing accommodations
Large print
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A look at some of the commonly held myths surrounding albinism
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Stigma of difference
Film and literature stereotypes
Common myths in western cultures
Albinism in other cultures
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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: [email protected]
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