all about albinism
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An overview of the condition and how it is inherited
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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-
Ocular albinism, OA1
Albinism plus other features, !"#1-$
Albinism:
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%
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OCA1 OCA2 OCA3 OCA
Tyr p Trp1 SLC45A2
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HPS: a group of recessive genetic conditions with albinism
+and associated visual impairment, platelet dysfunction,
inflammatory bowel disease, and pulmonary fibrosis. "eople
with albinism and any of these other conditions, especially
delayed clotting and easy bruising should be evaluated for!"#. ecause !"# is more common in "uerto ico, people
with albinism of "uerto ican ancestry should be screened for
!"#.
Contact the !"# $etwor/ 0ncorporated, One #outh oad,
Oyster ay, $ew or/ 11''1-1)*%, tel. 1 +(** '()-)!"#
Other Types of Albinism
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OA1: an -lin/ed
form of albinism,
primarily affecting
the eyes,including the
visual impairment
common to all
forms of albinism.ecause it is -
lin/ed, it affects
mostly boys.
Other Types of Albinism
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A discussion of how we see4 and the nature of the visual impairmentassociated with albinism
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Common Ocular Features
of Albinism5 eduction in iris 6 retinal pigment
5 0ris translucency5 7oveal hypoplasia
5 8isrouting of optic nerves at chiasm
5 $ystagmus5 Alternating strabismus
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Optic Misrouting in
AlbinismOptic pathways in humans Pigmente Albinism
9emporal 9emporal
$asal $asal
!"# ""# $1%# &'%#
(ncrossefibers
Crossefibers
(ncrossefibers
Crossefibers
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$ormal etina
7ovea
8issing
7ovea
Albino etina
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1)
8att
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8att
8att
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eading distance - & inches21
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:ac/ of detail:ight sensitivity$ystagmus 8y world doesn;t actually sha/e.4
"oor depth perception
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An introduction to the world;s largest charitable support organi
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9o provide information and support to the
albinism community
9o encourage better diagnosis and
management of albinism
9o educate the public about albinism often
combating myths and misconceptions
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$ational conference8ini conferences8agaweb boards 0nformation bulletins(** numberapid esponder program7amily camps"arent toolbo?"arent boo/
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A brief loo/ 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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#elf-esteem #tares, smir/s 6 shout-outs4
@mploymentniBue concerns in communities of color#tigma of difference"arenting a special needs child
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#pecial considerations for students with albinism in the mainstreamclassroom
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#eating:ighting 6 glare
Aids !igh-tech
:ow-tech8aterials for reading and writing9esting accommodations:arge print
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A loo/ at some of the commonly held myths surrounding albinism
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#tigma of difference7ilm and literature stereotypes
Common myths in western culturesAlbinism in other cultures
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The )ational Organi*ation for Albinism +Hypopigmentation ,)OAH-
"O o? )%)
@ast !ampstead, $! *3(2&-*)%)
"hone (** '3-231* +# and Canada or &*3 (('-231*7a? (**-&(-231*
=eb site www.albinism.org
@mail infoDalbinism.org
http://www.albinism.org/mailto:[email protected]:[email protected]://www.albinism.org/