Dysregulation of Retinal Transcription Factor PRDM13 and North Carolina Macular Dystrophy

The report by Small et al1 in the current issue (see p. 9) describes the discovery of the genetic cause of North Carolina macular dystrophy (NCMD) which initially was described as an autosomal dominant macular dystrophy by Lefler et al2 in 1971 and by Frank et al3 in 1974. North Carolina macular dystrophy is completely penetrant, highly variable among affected family members, and initially was considered slowly progressive (more on this later). The gene in the original families was assigned by classic linkage studies to chromosome 6 (MCDR1) in 1992.