Albinism, oculocutaneous

Oculocutaneous albinism (OCA; MIM 203100, MIM 203200, MIM 203290 and others) is characterised by typical ocular features of albinism (nystagmus, significantly reduced visual acuity, hypopigmented iris, hypopigmented fundus) plus severe hypopigmentation or depigmentation of hair and skin.

The skin cancer risk is increased significantly.  OCA describes a group of diseases with autosomal recessive inheritance and dysfunctional melanin synthesis.

Inheritance

Autosomal recessive

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Genes

TYR (OCA1A/B; MIM 606933), OCA2 (OCA2; MIM 611409), TYRP1 (OCA3; MIM 115501), SLC45A2 (OCA4; MIM 606202), SLC24A5 (OCA6; MIM 609802) and C10ORF11 (OCA7; MIM 614537).

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