1. Genetic Disorder Project Bio 30 Period 5 Julie Labach
Albinism
Genetic Disorder Project
By Julie Labach
Genetic Disorder Project
Bio 30
Period 5
Julie Labach

2. Ocular Albinism
Type 1

3. Causes Caused by mutations in the GPR143 gene
Gene provides instruction for making a protein that helps control the growth/maturation of melanosomes
Melanosomes are cellular structures that produce and store a pigment called melanin
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

4. Symptoms Pale blue eyes Only affects the eyes, not the skin or hair
Reduced visual acuity (anywere from 20/25 to 20/400)
Nystagmus ( the involuntary movement of the eyes)
Strabismus (crossed or lazy eyes)
Photophobia (ensitivity to bright lights and/or glare)

5. How Albinism Effects Your Sight
Lack of melanin results in:
The iris being unable to properly block light and the retina being unable to properly absorb it
Poor fovea development
Strayed optic nerves

6. Inheritance Sex linked (found in the X chromosome) Recessive Trait
Female carries abnormal chromosome
Much more common in males

7. Bioptic Telescope worn by people with severe visual disabilities
Treatment
Surgery to correct strabismus and/or nystagmus
Glasses/contact lenses/other visual aides
No cure
Bioptic Telescope worn by people with severe visual disabilities

8. Who Does It Affect?
Most commonly occurs in boys, due to the fact that it is sex linked
Effects 1 out of every males

9. Impact On Society
Society is usually very prejudiced towards those who suffer from albinism
Because of the lack of information about the disorder, the general public is often very ignorant
Many albino people are often discriminated against because of their outward appearance
There are also a huge amount of myths and legends about albinism

10. Recent Advances/Current Research
Nitisinone – experimental drug that increases hair and eye pigmentation, and may soon be a potential treatment

11. Foundations/Charities
The Albino Foundation
NOAH
Vision For Tomorrow Foundation

12. Oculocutaneous Albinism
Type 1

13. Causes Caused by a mutation in the tyrosinase gene
Found on chromosome 11
The tyrosinase gene regulates melanin synthesis
Melanin gives your hair, skin and eyes their color, and also plays a role in regulating your vision

14. Symptoms Milky white skin White hair Blue eyes
Depending on the type (OCA1A or OCA1B) they may or may not be able to develop pigment later in life
Reduced visual acuity
Nystagmus ( the involuntary movement of the eyes)
Photophobia (ensitivity to bright lights and/or glare)
Extreme sun sensitivity

15. How Albinism Effects Your Sight
Lack of melanin results in:
The iris being unable to properly block light and the retina being unable to properly absorb it
Poor fovea development
Strayed optic nerves

16. Inheritance Autosomal recessive
Must inherit 2 faulty genes, 1 from your mom and 1 from your dad

17. Treatment
Reduce risk of sunburn by avoiding sun exposure, using sunscreen, etc.
Surgery to correct nystagmus
Glasses/contact lenses/other visual aides
No cure

18. Who Does It Affect?
Estimated that 1/70 people carry the gene that causes OCA
Affects 1/17000 people

19. Impact On Society
Society is usually very prejudiced towards those who suffer from albinism
Because of the lack of information about the disorder, the general public is often very ignorant
Many albino people are often discriminated against because of their outward appearance
There are also a huge amount of myths and legends about albinism

20. Recent Advances/Current Research
Nitisinone – experimental drug that increases hair and eye pigmentation, and may soon be a potential treatment

21. Foundations/Charities
The Albino Foundation
NOAH
Vision For Tomorrow Foundation

22. Works Cited
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"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 <
"Albinism - Ocular, Types, Facts, Causes, Symptoms, Treatment, Genetics | Diseases Pictures." Diseases Pictures. N.p., n.d. Web. 7 May <
"GPR143 - G protein-coupled receptor Genetics Home Reference." Genetics Home Reference - Your guide to understanding genetic conditions. N.p., n.d. Web. 7 May <
"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 <

23. Works Cited (Continued)
"NOAH — What is Albinism?." NOAH — The National Organization for Albinism and Hypopigmentation N.p., n.d. Web. 7 May <
"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 <
"Oculocutaneous albinism - Genetics Home Reference." Genetics Home Reference - Your guide to understanding genetic conditions. N.p., n.d. Web. 7 May <
"Parnian Graphic Group - Packagings." Welcome to Parnian Graphic. N.p., n.d. Web. 7 May <
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