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ALBINISM
Brandon Ngo, Andrew Veals, Jai Mahey and Ryan Pham
03/03/2020
Albinism
Hereditary condition characterized by the absence or lack of melanin pigment in the eyes, skin, hair, scales, or feathers
Caused by mutation in genes producing melanin
What is it?
(“Albinism. (2020).”)
("Albinism. (n.d)")
Types
Oculocutaneous albinism affects skin, hair, eyes (subtypes OCA1-7)
Types
ocular albinism or Nettleship-Falls syndrome effects only eyes (OA1)
(“Albinism. (2018, April 7).”)
Karyotype
(Manga, P.)
Signs & Symptoms
Signs and Symptoms
Light coloured skin
White to light brown hair colour
Pale coloured eyelashes, eyebrowns, and iris
Vision impairment
(“Albinism. (2020).”)
("What is Albinism and How is Inherited")
("10 Of The Coolest Albino Animals You'll Ever See", 2015)
Examples
("What Is Albino Weed, And Does It Really Exist?")
Mode of Inheritance
(How do you get albinism?)
- Albinism can be caused by the genetic mutation of just one of many genes that are responsible for melanin production (“Albinism. (2020).”).
Mode of Inheritance
- this mutation can result in no melanin production completely
- or it can result in a huge reduction of melanin production
(“Home. (n.d.).”)
Oculocutaneous Albinism
- oculocutaneous albinism is inherited autosomal recessively (“Albinism. (2020).”)
- As we learned in class, both recessive alleles must be present for the trait to be expressed.
- This also means that carrier parents could unknowingly pass the trait to their children.
- The probability of humans having oculocutaneous albinism is 1 in 20,000
Oculocutaneous Albinism
(made on photoshop)
Ocular Albinism
- ocular albinism could be inherited in different ways, and is also rarer. (“Albinism. (2020).”).
- The probability of humans having ocular albinism is 1 in 50,000
- It’s more rare because the OA1 form of ocular albinism is inherited X-linked recessively. Because of this, males are more likely to have the OA1 form than females.
- Other forms of ocular albinism are inherited the same way as oculocutaneous albinism (autosomal recessively).
Ocular Albinism
(made on photoshop)
How to Treat Albinism
Treatment for Albinism
Since Albinism is a genetic disorder there is no real cure to it. Instead there are simple treatments that involve protection of eyes and skin.
- Using sunscreen, the higher the sun protection factor (SPF) the better
- Covering all parts of the body on days of high sun exposure
- Wearing UV protected sunglasses to provide relief against light sensitivity
Download Sunglasses Clipart Sun Cream - Sun Protection Clip Art PNG Image with No Backgroud. (n.d.). Retrieved from https://www.pngkey.com/maxpic/u2q8r5e6a9o0u2a9/
(“Albinism: MedlinePlus Medical Encyclopedia”)
Professional Treatment for Albinism
Nerd Glasses clip art - vector clip art online, royalty free & public ...: Glasses sketch, Nerdy glasses, Nerd glasses. (n.d.). Retrieved from https://www.pinterest.ca/pin/421579215090866440/
Treatment for Albinism is to relieve symptoms based on the severity of the disorder. More severe cases may be dealt professionally by ophthalmologists.
- Eye glasses may be prescribed to help correct vision problems and eye position
- In some cases eye muscle surgery is done to correct abnormal eye movements
Professional Treatments
Download Eye Logo. (n.d.). Retrieved from https://www.kissclipart.com/eye-surgery-icon-clipart-lasik-eye-surgery-g8nf5a/
(“Albinism. Mayoclinic.")
Screening/Detection Methods & Technologies:
- Visual signs: lacking of pigmentation in skin, hair, and colour (“Albinism. (2020).”)
- Genetic testing is most accurate for detecting defective, albinism-related genes (“Hurst, A. C. E.”).
- recommended if you have a family history of albinism
Screening Method and Technologies
("Albinism. (n.d)"
Electroretinograms
- Seeing an eye doctor (ophthalmologist) is a less accurate way to detect; may perform an electroretinogram (“What causes albinism?”).
Electroretinogram
- Electroretinogram: test that measures the electrical response of the eye's light-sensitive cells. These cells are part of the retina (the back part of the eye).
References
Albinism. (n.d.). Retrieved March 2, 2020, from https://infograph.venngage.com/p/219195/albinism
Albinism. (2018, April 7). Retrieved February 27, 2020, from https://www.mayoclinic.org/diseases-conditions/albinism/symptoms-causes/syc-20369184
Albinism. (2020). In Encyclopædia Britannica. Retrieved from https://school.eb.com/levels/high/article/albinism/5455
Herb. (n.d.). What Is Albino Weed, And Does It Really Exist? Retrieved from https://herb.co/learn/albino-weed/
Home. (n.d.). Retrieved from https://www.fishersci.ca/shop/products/melanin-mp-biomedicals-4/icn15534380
Hurst, A. C. E. (2017, October 26). Albinism: MedlinePlus Medical Encyclopedia. Retrieved from https://medlineplus.gov/ency/article/001479.htm
Manga, P. (2018). Molecular Biology of Albinism. Albinism in Africa, 99–119. doi: 10.1016/b978-0-12-813316-3.00005-2
Oculocutaneous Albinism. (n.d.). Retrieved February 27, 2020, from https://rarediseases.org/rare-diseases/oculocutaneous-albinism/
Tyrosinase. (n.d.). Retrieved February 28, 2020, from https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/tyrosinase
What causes albinism? (2018, March 29). Retrieved February 27, 2020, from https://www.healthline.com/health/albinism#types
What is Albinism and How is Inherited. (2016, April 26). Retrieved from https://someinterestingfacts.net/how-is-albinism-inherited/
White, A. (2019, April 26). How to Increase Melanin Naturally. Retrieved from https://www.healthline.com/health/how-to-increase-melanin
10 Of The Coolest Albino Animals You'll Ever See. (2015, December 27). Retrieved from https://www.lolwot.com/10-of-the-coolest-albino-animals-youll-ever-see/