Written by: Zobiana Dillsworth
Albinism is a condition in which the body does not create as much melanin as it should. Specifically, the eyes, skin, and hair have little to no melanin pigment. It is a recessive disorder, meaning an albinism gene must be inherited from each parent for the condition to be expressed. 1 in 70 people have albinism and it can affect anyone, no matter their race, sex, or other defining characteristics.
There are two forms of albinism: oculocutaneous and ocular. Oculocutaneous albinism includes the dilution of hair, eye, and/or skin color. It is the most common form and can be further classified as OCA 1A, OCA 1B, OCA 2OCA 2 Mutation, OCA 3TYRP 1 Mutation, OCA 4SLC45A2 Mutation. OCA 1A is caused by absent tyrosinase activity and is characterized by the following: blue-grey eyes, reduced visual acuity, white or yellow hair, white skin, and non-pigmented moles. OCA 1B is caused by reduced, but not absent, tyrosinase activity and is characterized by variable dilution of skin and hair pigment; it is a temperature-sensitive subtype. OCA 2OCA 2 Mutation is Prader-Willi and Angelman-associated; it is characterized by variable dilution of skin and hair pigment as well as solar lentigines on sun-exposed skin. OCA 3TYRP 1 Mutation is caused by reduced eumelanin synthesis and has rufous/red and brown subtypes. Finally, OCA 4SLC45A2 Mutation is similar to OCA 2 and is commonly found in Japan, China, and India. Other types of albinism are Hermansky-Pudlak syndrome, Cross syndrome, Chediak-Higashi syndrome, and Griscelli syndrome.
The biggest issue that comes with albinism is the lack of melanin. Melanin pigment absorbs UV light from the sun, which protects the skin and aids in vision development. The absence of melanin production leads to skin, eye, and other bodily problems. For the skin, the affected person is easily sunburned and has an increased chance of getting skin cancer. Those with albinism may have impaired vision, photophobia (sensitivity to light), nystagmus (involuntary eye movement), strabismus (eyes don’t fixate), and/or retinal involvement. Those affected may also have hearing disabilities, immune deficiency, or blood clotting issues.
The best way to avoid albinism-related problems is to practice sun safety. This includes wearing protective clothing, hats, sunglasses, and sunscreens with an SPF of 50+. They should also go to the doctor to be checked for skin cancer regularly because the lack of melanin production prevents discoloration from being recognized. (1)
Image Source: United Nations (UN)
References:
Ngan, Vanessa, and Harriet Cheng. “Albinism.” DermNet, https://dermnetnz.org/topics/albinism.
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