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. Figure 1 Pedigree of family with autosomal dominant pattern dystrophy. Square: male; circle: female; solid symbol: affected; open symbol: unaffected. The proband I-1 is a 76 year old man who referred with progressive reduction of visual acuity at approximately 50 years of age; he showed an uncorrected visual acuity of 20/400 in the right eye and 20/100 in the left eye in lateral gaze position. Examination of the retina showed pink optic nerve heads, normal retinal vessels, …
