Albinism in humans

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Albinism is a congenital condition characterized in humans by the partial or complete absence of pigment in the skin, hair and eyes. Albinism is associated with a number of vision defects, such as photophobia, nystagmus, and amblyopia. The visual abnormalities regarding albinism are mainly caused by reduced melanin during optic development, leading to misrouting of optic nerve fibers and underdevelopment of the fovea. Lack of skin pigmentation makes for more susceptibility to sunburn and skin cancers. In rare cases such as Chédiak–Higashi syndrome, albinism may be associated with deficiencies in the transportation of melanin granules. This also affects essential granules present in immune cells, leading to increased susceptibility to infection. Albinism results from inheritance of recessive gene alleles and is known to affect all vertebrates, including humans. Many genes are now known to cause oculocutaneous albinism, that include TYR, OSA2, TYRP1, SLC45A2, SLC24AB, and C10orf11, all of...

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