Opinion Paper

Oculocutaneous albinism in southern Africa: Historical background, genetic, clinical and psychosocial issues

Jennifer G.R. Kromberg, Robyn Kerr
African Journal of Disability | Vol 11 | a877 | DOI: https://doi.org/10.4102/ajod.v11i0.877 | © 2022 Jennifer Grace Kromberg, Robyn Ann Kerr | This work is licensed under CC Attribution 4.0
Submitted: 10 April 2021 | Published: 14 October 2022

About the author(s)

Jennifer G.R. Kromberg, Department of Human Genetics, Faculty of Health Sciences, University of the Witwatersrand and National Health Laboratory Service, Johannesburg, South Africa
Robyn Kerr, Department of Human Genetics, Faculty of Health Sciences, University of the Witwatersrand and National Health Laboratory Service, Johannesburg, South Africa


Share this article

Bookmark and Share

Abstract

Albinism is an inherited condition associated with significant depigmentation of the skin, hair and eyes. It occurs in every population with varying frequency, and narratives of people with albinism have been recorded since 200 BC. In southern Africa albinism is common, about 1 in 4000 people are affected, but it remains a poorly understood condition surrounded by myths and superstition. This article provides a historical background on oculocutaneous albinism (OCA) in southern Africa and presents relevant information from the literature regarding epidemiology, genetics and genetic counselling, health, psychosocial and cultural issues, and medical care. There are several recessively inherited types of OCA and a mutation, responsible for about 80% of South African variants, has been identified in OCA type 2. The physical characteristics associated with albinism, that is, sun-sensitive skin and low vision, can be managed. However, people with OCA in Africa also experience psychosocial issues, such as discrimination, because of the various superstitious beliefs and attitudes held in the community. Management should include medical care for health problems, appropriate adjustment of the schooling context and genetic counseling. In addition, widespread public awareness programmes are required to increase the knowledge of the genetic causes of OCA and of the nature of genetic counselling, to address the negative attitudes in the community, to reduce the marginalisation and stigmatization of people with albinism and to improve their quality of life.

Keywords

albinism and Africa; clinical management; culture; disability; epidemiology; genetics; genetic counselling; health; oculocutaneous albinism; psychosocial issues.

Metrics

Total abstract views: 508
Total article views: 416


Crossref Citations

No related citations found.