Skin/hair/eye pigmentation, variation in, 4

Common Name(s)

Skin/hair/eye pigmentation, variation in, 4

Oculocutaneous albinism (OCA) is a heterogeneous autosomal recessive disorder, with a worldwide prevalence of approximately 1:17,000. It manifests as a reduction or complete loss of melanin in the skin, hair, and eyes, often accompanied by eye symptoms such as photophobia, strabismus, moderate to severe visual impairment, and nystagmus (summary by {8:Wei et al., 2013}). For a discussion of genetic heterogeneity of oculocutaneous albinism, see OCA1 ({203100}). For a general phenotypic description and a discussion of genetic heterogeneity of variation in skin, hair, and eye pigmentation, see SHEP1 ({227220}).
 

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Scientific Literature

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