Albinism is a melanin defect. Melanin is the substance that gives color to the hair, skin, and eyes. Therefore, those with albinism have little to no coloration in these body parts. It occurs in one in every 17,000 people worldwide and can affect people of all races or ethnicities. The most severe form is called oculocutaneous albinism, in which hair, skin, and eyes are light pink or white. People with this type of albinism also often have vision problems. These vision problems result from a poorly developed fovea, which means that people with albinism have to turn their heads until they find a point of focus. The optic nerve and retina are also impaired, which causes faulty depth perception and decreased ability to absorb light. However, the vision problems that result from albinism are non-degenerative, meaning that they will not worsen over time. Many forms of albinism are also associated with crossed eyes and rapid eye movements. Other variations of albinism include: ocular albinism type 1 (OA1), Hurmansky-Pudlak syndrome (HPS), Chediak-Higashi syndrome, tuberous sclerosis, Waardenburg syndrome, and Griscelli syndrome. These rarer and more serious versions of the condition can involve bleeding disorders, bruising, lung problems, intestinal disorders, and lower immunity.

Albinism can be caused by several genetic defects. Therefore, genetic testing, especially for those who have a family history of albinism, is the most effective way to diagnose the disorder. In general, it is an inherited genetic condition. Most forms are recessive, which means that children with albinism are often born to parents with normal pigmentation who are carriers for albinism.

Albinism cannot be cured but symptoms can be relieved with treatment. Most treatments involve protecting a person with albinism from the sun with sunscreen and sunglasses. Those with more severe albinism may need glasses or eye surgery to correct vision problems and abnormal eye movements. Albinism does not usually affect lifespan but it can cause complications such as blindness and skin cancer. It can also limit the ability to participate in certain activities because of intense sun sensitivity. Though it is a lifelong condition, people with albinism are generally able to function normally and maintain a high quality of life.

References:

“About Albinism.” The Vision for Tomorrow Foundation. Web. http://www.visionfortomorrow.org/about-albinism/

“Albinism.” MedlinePlus. U.S. National Library of Medicine, 29 October 2013. Web. https://www.nlm.nih.gov/medlineplus/ency/article/001479.htm

“Albinism: Frequently Asked Questions.” The Vision for Tomorrow Foundation. Web. http://www.visionfortomorrow.org.php5-20.ord1-1.websitetestlink.com/albinism-faqs/

“Genetics and Types of Albinism.” The Vision for Tomorrow Foundation. Web. http://www.visionfortomorrow.org/genetics-of-albinism/

“Melanin.” MedlinePlus. U.S. National Library of Medicine, 27 October 2014. Web. https://www.nlm.nih.gov/medlineplus/ency/article/002256.htm