Albinism.
Albinism is the term applied to a heterogeneous group of genetically determined disorders characterized by hypopigmentation and affecting the eyes. After describing the clinical features of albinism in general, the authors discuss the various forms of oculocutaneous albinism, ocular albinism, and albinoidism that are of interest to the ophthalmologist. Emphasis is placed on the ocular features of each form. The visual pathway abnormalities and the clinical management of albinism are discussed.
D000417:Albinism / Q000145:classification / Q000453:epidemiology / Q000473:pathology* / Q000503:physiopathology; D000818:Animals; D001306:Auditory Pathways / Q000503:physiopathology; D002609:Chediak-Higashi Syndrome / Q000175:diagnosis / Q000473:pathology / Q000503:physiopathology; D003116:Color; D005074:Evoked Potentials, Visual; D005128:Eye Diseases / Q000473:pathology; D005260:Female; D005584:Fovea Centralis / Q000473:pathology; D006474:Hemorrhagic Disorders / Q000150:complications; D006801:Humans; D008297:Male; D008543:Melanins / Q000096:biosynthesis / Q000378:metabolism; D014442:Monophenol Monooxygenase / Q000378:metabolism; D009760:Nystagmus, Physiologic; D010787:Photosensitivity Disorders / Q000628:therapy; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012867:Skin; D012871:Skin Diseases / Q000473:pathology; D012878:Skin Neoplasms / Q000150:complications / Q000517:prevention & control; D014792:Visual Acuity; D014795:Visual Pathways / Q000503:physiopathology
D008543:Melanins; D014442:Monophenol Monooxygenase