Classification of albinism in man.
Genetic, tissue culture and ultrastructural studies demonstrate the heterogeneous nature of oculocutaneous albinism and a proposed classification based on these criteria is given. Six mutations are identified and the population frequencies of the common forms are determined. Some forms have, in addition to a pigment defect, abnormalities in platelets, glycolipids and chromosomes. In tyrosinase positive albinism, both in vitro and in vivo pigment formation can be induced by 1-tyrosine or 1-dopa.
D000293:Adolescent; D000328:Adult; D000417:Albinism / Q000145:classification*; D000818:Animals; D001792:Blood Platelets / Q000648:ultrastructure; D001854:Bone Marrow Cells; D002648:Child; D002675:Child, Preschool; D005260:Female; D006197:Hair / Q000187:drug effects; D006474:Hemorrhagic Disorders / Q000150:complications; D006801:Humans; D008264:Macrophages; D008297:Male; D009074:Melanocyte-Stimulating Hormones / Q000097:blood; D051379:Mice; D008850:Microphthalmos / Q000235:genetics; D012157:Mononuclear Phagocyte System / Q000378:metabolism; D012880:Skin Pigmentation / Q000187:drug effects; D013577:Syndrome; D014443:Tyrosine / Q000494:pharmacology; D014792:Visual Acuity
D014443:Tyrosine; D009074:Melanocyte-Stimulating Hormones