In three (1.4%) of 218 cases we identified a pathogenic heterozygous variant (PRPH2 c.424C > T; p.R142W) causal for autosomal dominant central areolar choroidal dystrophy (CACD).
The great majority of p.Arg142Trp-carrying CACD patients originated from the southeast region of the Netherlands, and haplotype analysis strongly suggested a common founder mutation.
CACD macular dystrophy is associated with dominant drusen in most individuals carrying the Arg142Trp mutation in the peripherin/RDS gene in the three families described.