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OCA3 (oculocutaneous albinism linked to the gene TYRP1) or red oculocutaneous albinism is produced by a mutation in the gene TYRP1 in chromosome 9p23.
Cases described in literature consist of “red”, “reddish” or “yellow” albinism, with red or brown-reddish skin, towny or reddish hair and blue or hazel irises. The ocular manifestations of albinism are not always present, in fact many patients do not have transparent irises, nystagmus, strabismus or foveal hypoplasia.
Individuals with OCA with red hair and reddish-brown skin pigment have been described in Africa and New Guinea, but the clinical description is not complete, there is little biochemical data and a similar phenotype has not been identified or described in the United States.
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