Oculocutaneous Albinism Matt Roth

The gene that the mutation occurs in to cause this disease is Tyrosine. Tyrosine produces Tyrosinase, which is a protein. Oculocutaneous Albinism was first observed by two men, named Aulus Gellius and Plinius Secundus the Elder. Some time in 1908, its discovery as a disease was credited to Archibald Garrod.

The incidence rate of the disease in the US is 1/36,000 people get it, and 1/40,000 get it in the whole world. All groups of people can get Oculocutaneous Albinism, but it is very uncommon for African Americans to get it. The symptoms to Oculocutaneous Albinism are hypersensitivity to light, eye misalignment, abnormal decussation, reduced iris pigment, reduced retinal pigment, the eyes not able to track things together, and much more.

A kid affected by Oculocutaneous albinism

Oculocutaneous albinism is diagnose by the doctor diagnosing the condition based on the appearance of the patient's skin, hair, and eyes. Also, an ophthalmologist will perform a electroretinogram test, which can reavel the vision problems the patient is having with Oculocutaneous albinism. The disease can be treated by wearing sunglasses to protect the rays of the sun, wearing protective clothing, and putting on sunscreen when the sun is out. The patient can get prescription eyeglasses to help with the vision problems, have surgery on the muscles of the eyes to correct the movement of their eyes.

Oculocutaneous albinism could increase the risk of skin cancer. People who are diagnosed with it will be sensitive to the sun more than others that don't have the disease. The genetic pattern of inheritance is autosomal and recessive. Infact, there is current research being conducted on Oculocutaneous albinism. This is what I found, "A team led by Brown University biologists has discovered the way in which a specific genetic mutation appears to lead to the lack of melanin production underlying a form of albinism" (Orenstein).

Works Cited

Abino Child with Red Eyes. Pinterest.

“Albinism.” Exams and Tests, 2008. New York Times, www.nytimes.com. Accessed 4 Feb. 2017.

Archibald Garrod. Who Discovered It, www.whodiscoveredit.com/. Accessed 4 Feb. 2017.

Kivi, Rose, and Matthew Solan. “Albinism.” Edited by Mark R. Laflamme. Healthline, Healthline Media, 2017, http://www.healthline.com/. Accessed 4 Feb. 2017.

“Oculocutaneous Albinism.” National Organization for Rare Disorders (NORD), NORD, 2016, rarediseases.org. Accessed 4 Feb. 2017.

Orenstein, David. “New Research Unlocks a Mystery of Albinism.” Brown University, 2017, news.brown.edu. Accessed 4 Feb. 2017.

Rare Dis, Orphanet J. Eyes from a patient with OCA1A. Note that the irises are almost pink, and fully translucent. 2 Nov. 2007. National Center for Biotechnology Information, NCBI, www.ncbi.nlm.nih.gov. Accessed 4 Feb. 2017.

---. Fundus Picture of a patient with albinism (a) and Fundus picture of a normal eye (b). 2 Nov. 2007. National Center for Biotechnology Information, NCBI, www.ncbi.nlm.nih.gov. Accessed 4 Feb. 2017.

“Tyrosinase Precursor [Homo Sapiens].” Blast, NCBI, blast.ncbi.nlm.nih.gov. Accessed 30 Jan. 2017.

“Who Discovered Albinism.” Who Discovered It, 2017, www.whodiscoveredit.com. Accessed 30 Jan. 2017.

Zimbawean Boy with Blue Eyes. Afritorial, Influence Media, afritorial.com. Accessed 4 Feb. 2017.

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