The H402 allele of the CFH gene is an established risk factor for age-related maculopathy (ARMD) in Caucasians, accounting for approximately 60% of the genetic risk at the population level. In general, the advanced forms of ARMD are rare in Black populations in Africa, as well as Black populations who have lived for generations in the United States or the West Indies, although there are reports that the earlier forms such as drusen may not be all that uncommon. The aim of the present study was to estimate the frequency of the C allele of the CFH Y402H variant in an aged South African Black Xhosa population and to describe the evidence of ARMD found.
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