Red or rufous albinism in southern Africa

Ophthalmic Paediatrics and Genetics
J G KrombergT Jenkins

Abstract

Red or rufous albinism is a rare type of oculocutaneous albinism described, but not as yet fully investigated, in Africa and New Guinea. Twelve rufous albino subjects from 10 families participated in this preliminary study. The prevalence of rufous albinism was found to be approximately one in 8,580 among school children in the negroid population. The combination of the unusual red skin colour, ginger to reddish hair colour, low susceptibility to sun damage, and minimal visual problems, in affected individuals, suggested that they form a group which is distinct from the brown and other types of albinism. The mode of inheritance was found to be recessive. Tyrosinase assays showed that rufous albinos are tyrosinase positive and on electron microscopy studies normal melanosomes and melanocytes were observed in hair bulbs and skin. Visual evoked potential testing did not show the gross decussation abnormalities of the optic pathway detected in other types of albinism. Rufous albinism might be at one end of the spectrum of types of oculocutaneous albinism and, because affected people have such mild symptoms, their inclusion in this group might be debatable.

References

Jul 1, 1989·Clinical Genetics·J G KrombergT Jenkins
Aug 1, 1986·Journal of Medical Genetics·D F RobertsT Jenkins
Feb 1, 1986·The American Journal of Dermatopathology·J I PhillipsH Carman
May 1, 1971·Annals of Human Genetics·R J Walsh
May 1, 1983·Electroencephalography and Clinical Neurophysiology·P ApkarianD Van Dorp
Feb 1, 1953·Annals of Eugenics·N A BARNICOT

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Citations

Dec 1, 1996·Human Nature : an Interdisciplinary Biosocial Perspective·C M Hill, H L Ball
Feb 1, 1997·Pigment Cell Research·R E Boissy, J J Nordlund
Jun 18, 2009·American Journal of Medical Genetics. Part a·Pei-Wen ChiangAngela Scheuerle
May 18, 2006·Pigment Cell Research·Caroline RooryckBenoît Arveiler
Oct 10, 2014·Photochemistry and Photobiology·Caradee Y WrightRichard W Hertle
Oct 21, 2000·Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus·F SoongC A Westall
Sep 1, 2018·Annual Review of Genomics and Human Genetics·Amanda KrauseMichèle Ramsay
Oct 23, 2018·Investigative Ophthalmology & Visual Science·Ighovie F OnojafeBrian P Brooks
Apr 19, 2003·Journal of the European Academy of Dermatology and Venereology : JEADV·J F OkuliczC K Janniger
Jun 1, 1992·Ophthalmic Paediatrics and Genetics·A KrissD Taylor

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