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1. Name of disorder and any nicknames (Ex: Trisomy 21 aka Down’s Syndrome)

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1. Name of disorder and any nicknames (Ex: Trisomy 21 aka Down’s Syndrome)

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The name of the disorder is Albinism. Nicknames for the disorder include Oculocutaneous Albinism (OCA), Ocular Albinism, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Griscelli syndrome, Achromia, Achromasia, and Achromatosis.

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2. What causes the disorder, and what gene or chromosome is affected?

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2. What causes the disorder, and what gene or chromosome is affected?

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The cause of albinism disorder is a defect or mutation in one of several genes that produce or distribute melanin, which is the pigment that gives color to the skin, eyes, and hair. The defect consists of improper distribution or reduced production of melanin. The chromosome that is affected is the X chromosome, which occurs due to a gene change.

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3. Are there prenatal tests for this disorder? If so, how are they tested?

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3. Are there prenatal tests for this disorder? If so, how are they tested?

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The prenatal tests for the albinism disorder are genetic counseling and examination for mutation detection. The tests consist of light and electron microscopic inspection of melanogenesis. The indications of direct screening for mutations are completed by detection of combined mutations or haplotype analysis of one mutation.

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The disorder of albinism is diagnosed through examination of appearance and the skin. When babies are first born, they begin to show signs of albinism with discoloration in the pigment of their skin, hair, and eyes. In addition, electrodiagnostic testing is used to identify the electrons of the scalp used to test the eyes to the part of the brain that controls vision.

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5. How does a person get this disorder? (Mutation or Inherited?)

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5. How does a person get this disorder? (Mutation or Inherited?)

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Albinism is a mutation of certain genes which affect the amount of melanin your body produces. It is mainly caused when the condition is inherited from both the mother and father.

When you are a toddler your hair, skin, and eyes will lack pigmentation and will be clear of albinism.

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6. What are the symptoms or effects on the individual with this disorder? Be specific and detailed.

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6. What are the symptoms or effects on the individual with this disorder? Be specific and detailed.

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The symptoms or effects of Albinism include,

1. Pale skin

2. Light hair

3. Pink, Light blue, green, gray, or light brown eyes

4. Sensitivity to light in your eyes

5. Nystagmus

6. Strabismus

7. Problems with vision

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7. Which population is affected? (Males, females, certain ethnicities, etc?)

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7. Which population is affected? (Males, females, certain ethnicities, etc?)

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There is no specific race, gender, or culture who is affected by albinism. Albinism is a disorder that affects anyone who is lucky enough to receive it. Not only does it affect humans, but it can affect any living animal as well.

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The short answer is no. There is no cure for albinism. The best you can do is protect yourself from sun damage.

This can include:

using sunglasses to protect yourself from the sun's gaze

Applying sunscreen with SPF 30 or higher and replying every two hours

Wearing protective clothing like hats, pants, and longsleve shirts.

avoiding exposure to the sun during peak hours of ultraviolet rays (from 10am to 2 pm)

Overall, there is no treatment for albinism. You can only actively protect yourself from the sun's rays and monitor your skin problems.

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9. What is the long-term outlook for an individual with albinism?

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9. What is the long-term outlook for an individual with albinism?

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Longe term effects on an individual with albinism can include

Vision impairment

reduced visual acuity

sensitivity to light

intolerantly eye movements

Higher risk of skin cancer

with the absence of melanin (provides us protection from the sun) there is a higher chance of skin cancer developing

Social factors

living with a visible difference from others can lead to problems related to self-esteem and confidence.

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10. What is the current status of research on this disorder

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10. What is the current status of research on this disorder

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As of now there is no cure for albinism. Current research and treatment aims to either surgically or pharmacologically to optimize vision. Treatment also aims to protect skin and monitor skin conditions.

However, advancements in genetic research and technology may eventually lead to breakthroughs in treating genetic conditions such as albinism.

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NOAH the National Organization for Albinism and Hypopigmentation hosts support groups that people diagnosed with Albinism can attend. They host local events that you can attend. They also host virtual events you can also attend if you can't make the local ones.

NOAH's mission is to act as a safe space where people with albinism in the U.S. and Canada can find acceptance, support, and make friends. They Envision a world where people diagnosed with albinism can act as fully functioning members of society.

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“About Noah - National Organization for Albinism and Hypopigmentation.” National Organization for Albinism and Hypopigmentation - Where People with Albinism and Their Families Can Find Acceptance, Support and Fellowship., 13 Mar. 2024, albinism.org/about-noah/.

Curtis, Lindsay. “How Albinism Affects Your Skin, Hair, and Eye Health.” Health, Health, 1 Dec. 2023, www.health.com/albinism-8400724#toc-treatment.

Liu, Siyin, et al. Current and Emerging Treatments for Albinism, 21 Apr. 2021, www.sciencedirect.com/science/article/pii/S0039625720301454?via%3Dihub#abs0010.

Kivi, Rose. “What You Need To Know About Albinism.” Healthline, Healthline Media, 19 Apr. 2023, www.healthline.com/health/albinism#types-pictures.

Dunning, Brian. “Albinism in Humans.” Wikipedia, Wikimedia Foundation, 29 July 2014, en.wikipedia.org/wiki/Albinism_in_humans.

Pruthi, Sandhya. “Albinism.” Mayo Clinic, Mayo Foundation for Medical Education and Research, 13 Dec. 2023, www.mayoclinic.org/diseases-conditions/albinism/symptoms-causes/syc-20369184#:~:text=The%20most%20common%20form%20of,called%20X%2Dlinked%20recessive%20inheritance.

Team, NHS. “Albinism- NHS.” NHS Choices, NHS, 26 Sept. 2023, www.nhs.uk/conditions/albinism/#:~:text=Diagnosing%20albinism&text=Your%20baby’s%20hair%2C%20skin%20and,used%20to%20help%20diagnose%20albinism.