Oculocutaneous albinism

Definition:

Oculocutaneous albinism (OCA) is a genetically heterogeneous congenital disorder of melanin biosynthesis characterized by decreased or absent pigmentation in the hair, skin, and eyes.

References:

[1]. Fanny Morice-Picard, et al. SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism. J Invest Dermatol. 2014 Feb;134(2):568-571. [Content Brief]

[2]. J M Newton, et al. Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. Am J Hum Genet. 2001 Nov;69(5):981-8. [Content Brief]

[3]. Karen Grønskov, et al. Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism. Am J Hum Genet. 2013 Mar 7;92(3):415-21. [Content Brief]

[4]. Karen Grønskov, et al. Oculocutaneous albinism. Orphanet J Rare Dis. 2007 Nov 2;2:43. [Content Brief]

[5]. Pei-Wen Chiang, et al. Synergistic interaction of the OCA2 and OCA3 genes in a family. Am J Med Genet A. 2008 Sep 15;146A(18):2427-30. [Content Brief]

[6]. Perrine Pennamen, et al. Dopachrome tautomerase variants in patients with oculocutaneous albinism. Genet Med. 2021 Mar;23(3):479-487. [Content Brief]

[7]. Y Tomita, et al. Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene. Biochem Biophys Res Commun. 1989 Nov 15;164(3):990-6. [Content Brief]

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