Toyofuku K, Valencia JC, Kushimoto T, et al. NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, The TYRP1 enzyme is responsible for later steps (after the initial tyrosinase step) in melanin pigment production. Specific recommendations for skin care depend on the pigment status. [PubMed: 5032699, related citations] To search for patient organizations and other pages related to this topic, use the Advanced Search function at the top right corner of the page. - Caused by mutation in the homolog of the mouse pink-eyed dilution gene (OCA2, Cassandra L. Kniffin - updated : 4/26/2011, Cassandra L. Kniffin - updated : 3/3/2009, Nance et al. [Full Text], Rose, N. C., Menacker, S. J., Schnur, R. E., Jackson, L., McDonald-McGinn, D. M., Stump, T., Emanuel, B. S., Zackai, E. H. Nordlund JJ, Boissy RE, Hearing VJ, King RA, Oetting WS, Ortonne J-P, eds. Individuals diagnosed with OCA should be evaluated by an ophthalmologist at the time of diagnosis to determine the extent of the disease and have ongoing ophthalmologic examinations annually. Affected individuals have golden colored hair, white skin and the same visual problems that occur in OCA1. (1997) found the common 2.7-kb P gene deletion (611409.0001) in 10 (1.3%) of 780 OCA2 chromosomes in a normally pigmented southern African population, and at a lower frequency in normally pigmented individuals from central Africa, 2 (0.2%) of 834 OCA2 chromosomes. The precise function of this protein is unknown but it belongs to a family of potassium-dependent sodium/calcium exchangers. [Full Text], McKusick, V. A. Mutations of the human P gene associated with type II oculocutaneous albinism (OCA2). [PubMed: 8428754] Roy. The tyrosine-positive oculocutaneous albinism locus is not linked to the beta-globin locus in man. II.

Hair color is usually not completely white and there can be some pigment present in the skin but skin color is usually lighter than in unaffected relatives.

Comparisons may be useful for a differential diagnosis: Hermansky-Pudlak syndrome is a rare, hereditary disorder that consists of three characteristics: reduced skin, hair and eye pigmentation (oculocutaneous albinism, with associated vision problems), blood platelet dysfunction leading to prolonged bleeding, and abnormal storage of a fatty-like substance (ceroid lipofuscin) in various tissues of the body. Genet. Accessed Aug. 10, 2015. [Full Text]. The Clinical Delineation of Birth Defects. Abnormalities of Pigmentation. (2008) reported a Hispanic girl with OCA2 caused by compound heterozygous mutations in the OCA2 gene. This can vary between different populations depending on the type of OCA and the population being studied. Visual evoked potentials in Negro carriers of the gene for tyrosinase positive oculocutaneous albinism. (2003) performed mutation analysis on 40 OCA1-negative Japanese albino patients and identified 6 different novel mutations in 6 unrelated patients. Edinburgh, Scotland: Churchill Livingstone; 2007:3380-3427. Am. The Johns Hopkins University. A number sign (#) is used with this entry because oculocutaneous albinism type II (OCA2) is caused by homozygous or compound heterozygous mutation in the OCA2 gene (611409) on chromosome 15q. [PubMed: 3148727] 42: 700-705, 1992. Chronic Dis. Thirty-four patients remained as unclassified OCA, supporting the idea that a third locus might be a major contributor to OCA. Evidence suggesting the inheritance mode of the human P gene in skin complexion is not strictly recessive. [Full Text: https://dx.doi.org/10.1038/ng.2007.13], Suzuki, T., Miyamura, Y., Matsunaga, J., Shimizu, H., Kawachi, Y., Ohyama, N., Ishikawa, O., Ishikawa, T., Terao, H., Tomita, Y. J. GeneReviews [Internet]. Oetting WS and King RA. Mutat. [Full Text: https://www.nejm.org/doi/10.1056/NEJM199402243300803?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%3dpubmed], Lee, S.-T., Nicholls, R. D., Schnur, R. E., Guida, L. C., Lu-Kuo, J., Spinner, N. B., Zackai, E. H., Spritz, R. A. (2008) concluded that haploinsufficiency of TYRP1 can modify the OCA2 phenotype, resulting in red hair in the absence of MC1R red alleles. Hopi Indians, inbreeding and albinism. Identification and molecular characterisation of the genes for brown and rufous oculocutaneous albinism in southern Africa. These chiasmal changes reflect the atypical crossing of the optic fibers, irrespective of the causative gene mutation. [PubMed: 12469324]

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