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Albinism
Genetic Disorder Project
By Julie Labach
GENETIC DISORDER PROJECT
BIO 30
PERIOD 5
JULIE LABACH
Ocular Albinism
Type 1
Causes
o Caused by mutations in the GPR143 gene
o Gene provides instruction for making a protein that helps control the
growth/maturation of melanosomes
o Melanosomes are cellular structures that produce and store a pigment called
melanin
o Melanin gives your hair, skin and eyes their color, and it also plays a role in
your vision
The GPR143 gene is located on the short arm of the X chromosome at position 22.3
Symptoms
o Pale blue eyes
o Only affects the eyes, not the skin or hair
o Reduced visual acuity (anywere from 20/25 to
20/400)
o Nystagmus ( the involuntary movement of the eyes)
o Strabismus (crossed or lazy eyes)
o Photophobia (ensitivity to bright lights and/or glare)
How Albinism Effects Your Sight
Lack of melanin results in:
o The iris being unable to properly block light and the retina
being unable to properly absorb it
o Poor fovea development
o Strayed optic nerves
Inheritance
o Sex linked (found in the X chromosome)
o Recessive Trait
o Female carries abnormal chromosome
o Much more common in males
Treatment
o Surgery to correct strabismus and/or nystagmus
o Glasses/contact lenses/other visual aides
o No cure
Bioptic Telescope worn by people with
severe visual disabilities
Who Does It Affect?
o Most commonly occurs in boys, due to the fact that it
is sex linked
o Effects 1 out of every 60 000 males
Impact On Society
o Society is usually very prejudiced towards those who
suffer from albinism
o Because of the lack of information about the
disorder, the general public is often very ignorant
o Many albino people are often discriminated against
because of their outward appearance
o There are also a huge amount of myths and legends
about albinism
Recent Advances/Current Research
o Nitisinone – experimental drug that increases hair
and eye pigmentation, and may soon be a potential
treatment
Foundations/Charities
o The Albino Foundation
o NOAH
o Vision For Tomorrow Foundation
Oculocutaneous
Albinism
Type 1
Causes
o Caused by a mutation in the tyrosinase gene
o Found on chromosome 11
o The tyrosinase gene regulates melanin
synthesis
o Melanin gives your hair, skin and eyes their
color, and also plays a role in regulating your
vision
Symptoms
o Milky white skin
o White hair
o Blue eyes
o Depending on the type (OCA1A or OCA1B) they may
or may not be able to develop pigment later in life
o Reduced visual acuity
o Nystagmus ( the involuntary movement of the eyes)
o Photophobia (ensitivity to bright lights and/or glare)
o Extreme sun sensitivity
How Albinism Effects Your Sight
Lack of melanin results in:
o The iris being unable to properly block light and the retina
being unable to properly absorb it
o Poor fovea development
o Strayed optic nerves
Inheritance
o Autosomal recessive
o Must inherit 2 faulty genes, 1 from your mom and 1
from your dad
Treatment
o Reduce risk of sunburn by avoiding sun exposure,
using sunscreen, etc.
o Surgery to correct nystagmus
o Glasses/contact lenses/other visual aides
o No cure
Who Does It Affect?
o Estimated that 1/70 people carry the gene that
causes OCA
o Affects 1/17000 people
Impact On Society
o Society is usually very prejudiced towards those who
suffer from albinism
o Because of the lack of information about the
disorder, the general public is often very ignorant
o Many albino people are often discriminated against
because of their outward appearance
o There are also a huge amount of myths and legends
about albinism
Recent Advances/Current Research
o Nitisinone – experimental drug that increases hair
and eye pigmentation, and may soon be a potential
treatment
Foundations/Charities
o The Albino Foundation
o NOAH
o Vision For Tomorrow Foundation
Works Cited
/>.
"Albinism - Improving Vision for Individuals with Albinism - Low Vision Guide." Low Vision Aids -
Bioptic Telescopes - Visually Impaired - Ocutech. N.p., n.d. Web. 7 May 2013.
<http://www.ocutech.com/low-vision-guide/albinism.aspx>.
"Albinism - Ocular, Types, Facts, Causes, Symptoms, Treatment, Genetics | Diseases Pictures." Diseases
Pictures. N.p., n.d. Web. 7 May 2013. <http://diseasespictures.com/albinism/>.
"GPR143 - G protein-coupled receptor 143 - Genetics Home Reference." Genetics Home Reference - Your
guide to understanding genetic conditions. N.p., n.d. Web. 7 May 2013.
<http://ghr.nlm.nih.gov/gene/GPR143>.
"Has BHM seen this Little Boy w/Blue Eyes Yet? - Black Hair Media Forum - Page 1." Black Hair Media
Forum. N.p., n.d. Web. 7 May 2013. <http://forum.blackhairmedia.com/has-bhm-seen-this-
little-boy-w-blue-eyes-yet_topic340679.html>.
Works Cited (Continued)
"NOAH — What is Albinism?."
Hypopigmentation
NOAH — The National Organization for Albinism and
. N.p., n.d. Web. 7 May 2013.
<http://www.albinism.org/publications/what_is_albinism.html>.
"Ocular Albinism Symptoms and Treatment · Healthy Living articles | Well Being center |
SteadyHealth.com." Medical Questions, Weight Loss, Pregnancy, Drugs, Health Insurance |
SteadyHealth.com. N.p., n.d. Web. 7 May 2013.
<http://www.steadyhealth.com/articles/Ocular_Albinism_Symptoms_and_Treatment_a1207.html>.
"Oculocutaneous albinism - Genetics Home Reference." Genetics Home Reference - Your guide to
understanding genetic conditions. N.p., n.d. Web. 7 May 2013.
<http://ghr.nlm.nih.gov/condition/oculocutaneous-albinism>.
"Parnian Graphic Group - Packagings." Welcome to Parnian Graphic. N.p., n.d. Web. 7 May 2013.
<http://www.parniangraphic.com/packagesEng.html>.
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