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Albinism in Nigeria with delineation of new recessive oculocutaneous type
Author(s) -
King Richard A.,
Creel Donnell,
Arvenka Jaroslav,
Okord Anezi N.,
Witkop Carl J.
Publication year - 1980
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1980.tb00145.x
Subject(s) - oculocutaneous albinism , albinism , melanosome , dermatology , pigment , iris (biosensor) , retinal , eye color , medicine , melanin , biology , ophthalmology , genetics , chemistry , gene , computer security , organic chemistry , computer science , biometrics
Seventy‐nine Nigerian oculocutaneous albinos were investigated. Fifty‐six had typical tyrosinase‐positive albinism (TPA) and 23 had brown albinism (BA), a new oculocutaneous type. The TPA were characterized by localized but no generalized skin pigment, yellow hair, blue to brown irides, nystagmus, and reduced or absent retinal pigment. Localized skin pigment included freckles and lentigines. The iris and skin pigment were the result of the slow accumulation of pigment with age as both were found in older individuals. The most severe skin changes were premalignant keratoses and squamous cell carcinoma of the skin, and the skin malignancies were the major factor in limiting the lifespan for TPA. The BA were characterized by generalized light brown skin pigment, light brown hair, blue to brown irides, nystagmus, and reduced retinal pigment. There was little accumulation or change of pigment in the eyes or skin with age. The generalized light skin pigment was effective in reducing sensitivity to solar radiation and very few BA had premalignant keratoses. Pedigree analysis for BA suggested an autosomal recessive inheritance pattern.