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Where on Chromosome is Problem?
There are four types of Albinism, each coming from a defect on one gene. The genes that can cause this are TYR, OCA2, TYRP1 and SLC45A2. Each corresponds to one type of albinism, types 1 through 4. All of these genes are involved in melanin production, but the failure of TYR is more catastrophic to melanin production than any of the others. Genes that cause these defects are hereditary, requiring both parents to have the recessive mutated trait.

What Is the Problem?
Albinism is a disorder which affects pigmentation of the skin, hair, and eyes. Severely reduced melanin production puts individuals who suffer albinism at a greatly increased chance of sunburn and sunburn-related skin cancer. Along with a lack of skin pigmentation, the iris and retina of the eye also lack pigmentation which causes increased sensitivity to light, decreased definition of vision, and is also associated with involuntary rapid eye movements.

What is the Prognosis?
Persons with Albinism can live long and fulfilling lives provided they take heightened steps to address the problem of their increased risk of skin cancer. While reduced eyesight in some afflicted persons does pose operational risks, a person with Albinism can live mostly ‘normal’ life.

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