Red or rufous albinism in southern Africa.

J G Kromberg, D J Castle, E M Zwane, J Bothwell, S Kidson, P Bartel, J I Phillips, T Jenkins

MRC Ecogenetics Unit, Department of Human Genetics, School of Pathology, SA Institute for Medical Research, Johannesburg, South Africa.

Ophthalmic paediatrics and genetics 1990 Sep

filter terms:

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.

Citation

J G Kromberg, D J Castle, E M Zwane, J Bothwell, S Kidson, P Bartel, J I Phillips, T Jenkins. Red or rufous albinism in southern Africa. Ophthalmic paediatrics and genetics. 1990 Sep;11(3):229-35