Lindsey Bateman, Sarah Barakeh, Gabby Winter Albinism Lindsey Bateman, Sarah Barakeh, Gabby Winter

What is Albinism? There are two kinds of albinism, ocular albinism, which primarily affects eyes, and oculocutaneous albinism. Oculocutaneous albinism refers to a group of genetically inherited disorders in which there is little or no melanin production. People with albinism usually have fair skin and sometimes hair because of the lack of pigment, and because melanin helps develop optic nerves, people with albinism often have vision problems. People of all races, ethnicities, and genders can develop albinism.

What’s the Science Behind Albinism? Melanocytes- located at the bottom of the epidermis-  have genetically mutated to where they no longer produce the pigment melanin, or are unable to distribute it to the outermost layer comprised of keratinocytes. Melanin is responsible for giving skin, hair, and eyes their pigmentation.

What are the Symptoms of Albinism? Albinism typically causes fair hair and skin, although pigmentation can vary from white to brown and hair color can vary as well. Comparing hair color and skin pigmentation differences with family members is often an indicator of the disorder, but if family members already have fair complexions it may be hard to tell.

What are some more Symptoms of Albinism? Freckle and mole formation with exposure to sunlight Inability to tan and a greater likelihood of sunburn Slight changes in hair color or skin pigmentation over time Vision problems Sensitivity to light Nystagmus Blurred vision caused by an astigmatism Poor depth perception

What causes Albinism? Albinism is a genetically inherited disorder and it is present at birth. When the gene is carried by both parents it is possible for the baby to inherit oculocutaneous albinism. Ocular albinism is carried through X chromosomes. Ocular albinism almost exclusively affects males and is inherited when a mother who carries the gene passes it on to her son.

What are the Cures for Albinism? There is no cure for Albinism, but there are things that have to be done to protect a patient’s skin, such as: Wearing sunscreen with a 20 percent SPF or higher Covering up as much skin as possible with clothing Staying out of the sun for a long period of time Wearing UV sunglasses to better protect eyes Patients with albinism should also attend regular check ups with an ophthalmologist (eye doctor) as well as have regular skin check ups to screen for skin cancer.

What’s the Worst Case Scenario? Albinism is not life threatening, but people with albinism have to take many precautions to protect their skin and eyes. Patients are much more likely to develop skin cancer as well and must get regular skin cancer screenings. Patients also need to be aware of excessive and irregular bruising and bleeding because these could be signs of Hermansky- Pudlam Syndrome (HPS), which is known to appear in albinism patients.

3 Facts About Albinism 1 out of 70 people carry the gene for Albinism Albinism is found in 1 in 20,000 people in the United States, and can be found in 1 in every 3,000 people in some parts of Africa People with albinism face persecution around the world due to the belief that their body parts have magical powers.

Sources Cited https://www.mayoclinic.org/diseases-conditions/albinism/symptoms-causes/syc-20369184 https://rarediseases.info.nih.gov/diseases/5768/albinism https://www.medicalnewstoday.com/articles/245861.php https://aapos.org/terms/conditions/12 https://list25.com/25-facts-about-people-with-albinism/3/

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