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

Ocular Albinism Type 1

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

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)

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

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

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

Who Does It Affect? Most commonly occurs in boys, due to the fact that it is sex linked Effects 1 out of every 60 000 males

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

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

Foundations/Charities The Albino Foundation NOAH Vision For Tomorrow Foundation

Oculocutaneous Albinism Type 1

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

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

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

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

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

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

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

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

Foundations/Charities The Albino Foundation NOAH 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?." NOAH — The National Organization for Albinism and Hypopigmentation . 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>.   MLA formatting by BibMe.org.