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GENETIC DISORDER PROJECT BIO 30 PERIOD 5 JULIE LABACH Albinism Genetic Disorder Project By Julie Labach

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Ocular Albinism Type 1

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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

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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)

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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

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

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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

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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

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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

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

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Foundations/Charities o The Albino Foundation o NOAH o Vision For Tomorrow Foundation

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Oculocutaneous Albinism Type 1

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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

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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

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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

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

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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

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

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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

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

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Foundations/Charities o The Albino Foundation o NOAH o Vision For Tomorrow Foundation

Slide 22 . "Albinism - Improving Vision for Individuals with Albinism - Low Vision Guide." Low Vision Aids - Bioptic Telescopes - Visually Impair">

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.. "Albinism - Ocular, Types, Facts, Causes, Symptoms, Treatment, Genetics | Diseases Pictures." Diseases Pictures. N.p., n.d. Web. 7 May 2013.. "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.. "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..

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Works Cited (Continued) "NOAH What is Albinism?." NOAH The National Organization for Albinism and Hypopigmentation. N.p., n.d. Web. 7 May 2013.. "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.. "Oculocutaneous albinism - Genetics Home Reference." Genetics Home Reference - Your guide to understanding genetic conditions. N.p., n.d. Web. 7 May 2013.. "Parnian Graphic Group - Packagings." Welcome to Parnian Graphic. N.p., n.d. Web. 7 May 2013.. MLA formatting by BibMe.org.