A novel mutation in the RDS gene in an Italian family with pattern dystrophy

The term ‘‘pattern dystrophy’’ (PD) of the retina refers to a group of inherited dystrophies characterised by deposition of abnormal pigment at the level of retinal pigment epithelium (RPE).1 Several studies have correlated PD with mutations in the RDS gene.2–7 Therefore, mutations in the same RDS gene have been reported to be associated with other retinal diseases.3 4 Here we report the clinical features of an Italian family (fig 1) affected by autosomal dominant PD associated with a new mutation in the RDS gene.