albinism

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albinism

[′al·bə‚niz·əm]
(biology)
The state of having colorless chromatophores, which results in the absence of pigmentation in animals that are normally pigmented.
(medicine)
A hereditary, metabolic disorder transmitted as an autosomal recessive and characterized by the inability to form melanin in the skin, hair, and eyes due to tyrosinase deficiency.
McGraw-Hill Dictionary of Scientific & Technical Terms, 6E, Copyright © 2003 by The McGraw-Hill Companies, Inc.
References in periodicals archive ?
Medico-Genetics of Oculocutaneous Albinism; An Updated Study with Pakistani Perspective.
Mutational spectrum of the TYR and SLC45A2 genes in Pakistani families with oculocutaneous albinism, and potential founder effect of missense substitution (p.Arg77Gln) of tyrosinase.
A dinucleotide deletion (?delta GA115) in the tyrosinase gene responsible for type I-A (tyrosinase negative) oculocutaneous albinism in a Pakistani individual.
Genetics of oculocutaneous albinism and its clinical analysis
The third locus of oculocutaneous albinism OCA3 is positioned on long arm of chromosome 9 (9p23).
Oculocutaneous albinism. Orph J Rare Dis 2007; 2:43.
Rufous oculocutaneous albinism in southern African blacks is caused by mutations in the TYRP1 gene.
Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4.
Photochromatic lenses were provided to 3 students, and a student with oculocutaneous albinism received sun lenses with a tint and ultraviolet protection.
Amelanotic metastatic melanoma in a patient with oculocutaneous albinism. J Am Acad Dermatol 1993; 28: 895-900.
Malignant melanoma in a patient with oculocutaneous albinism. J Cutan Med Surg 2000; 4:149-152.

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