All About Albinism

7/24/2019 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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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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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/

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All About Albinism