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Of the 14 loci so far associated with autosomal dominant retinitis pigmentosa (RP), the most recently cloned gene is the one responsible for RP17 which occurs in six South African families comprising 187 individuals. Of these, 60 individuals are currently affected with RP and 16 are at risk by virtue of their relatedness to a known mutation carrier. The gene responsible for RP17 is carbonic anhydrase IV (CA4), one of a family of carbonic anhydrases which are involved in the interconversion of carbon dioxide and carbonic acid (11). The proposed mechanism of disease suggests that a drug-based treatment may be possible. [ABSTRACT FROM AUTHOR]