ArticleAfrican journal of disability2022
Oculocutaneous albinism in southern Africa: Historical background, genetic, clinical and psychosocial issues.
Article in African journal of disability, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 3 of them syntheses that pooled it.
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Who cites it
14 citing papers in PubMed, 3 syntheses or guidelines pooled it, 23 citations in OpenAlex.
- Determining a Worldwide Prevalence of Oculocutaneous Albinism: A Systematic Review.Investigative ophthalmology & visual science · 2023Pooled it
- Identifying the genetic causes of developmental disorders and intellectual disability in Africa: a systematic literature review.Frontiers in genetics · 2023Pooled it
- A participatory systematic review on human rights and the birth of a child with albinism in sub-Saharan Africa.Women's health (London, England)Pooled it
- Public opinion survey on heritable human genome editing in South Africa: a study protocol.Global health action · 2026Article
- A novel TYR variant implicated in oculocutaneous albinism type 1 (OCA1): a study in an indigenous population in Southern Brazil.Journal of community genetics · 2026Article
- Clinical Manifestations and Genetic Spectrum of Oculocutaneous Albinism Type 2 in Chinese Patients.Genes · 2026Article
- Haplotype-Based Analysis of OCA2 Variants in Oculocutaneous Albinism.Pigment cell & melanoma research · 2026Article
- Genetics of Skin, Hair, and Eye Color in Human Pigmentation Disorders.Annals of human genetics · 2025Review
- Scoping review: the current landscape of NIPT in South Africa.Journal of community genetics · 2025Review
- Community perceptions towards children living with albinism in Africa: An integrative review.African journal of disability · 2025Review
- The molecular landscape of oculocutaneous albinism in India and its therapeutic implications.European journal of human genetics : EJHG · 2024Article
- Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center.Investigative ophthalmology & visual science · 2023Observational
- Human Skin Pigmentation: From a Biological Feature to a Social Determinant.Healthcare (Basel, Switzerland) · 2023Review
- Clusters of oculocutaneous albinism in isolated populations in Brazil: A community genetics challenge.Genetics and molecular biology · 2023Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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