Oculocutaneous albinism in a rural community of South Africa: a population genetic study

Oculocutaneous albinism type II (OCA2), the most common form of albinism worldwide, is prevalent throughout sub-Saharan Africa. The hypopigmentory phenotype distinguishes affected individuals as 'different' in a black population, resulting in problems of social acceptance and integration. Health issues include constant, lifelong sun-induced skin damage and poor vision. This study determined the frequency and distribution of albinism among the Vhavenda ethnic group living in the relatively low-income north of South Africa in a clan-oriented society. A retrospective study of birth records from regional hospitals gave an incidence of OCA of 1 in 1970, whereas a survey of mainstream schools gave a frequency of only one pupil with albinism in 13,319 as most affected children attended the regional special school. A community-based field study of 35 rural villages gave a prevalence of 1 in 2239 for OCA. One clan, the Vhatavhatsindi, had a significantly higher frequency of 1 in 832. This epidemiological study provides the necessary data for developing health care and welfare system for families affected by albinism in this region.