AUTOSOMAL-DOMINANT ANOMALIES OF THE IRIS PIGMENT-EPITHELIUM

Purpose: The authors document two families in which anomalies of the i ris pigment epithelium occur as an autosomal dominant trait. Methods: Eyes of members of two families were examined for the presence of anom alies of the iris pigment epithelium. Results: In both families, anoma lies characterized by iris pigment epithelial cysts and peripupillary ruffles were observed in successive generations. in one family, the pr oband was 3 months of age, and both cysts and ruffles were present in affected individuals. Conclusions: Anomalies of the iris pigment epith elium can be inherited in an autosomal-dominant pattern. The cystic an d ruffled phenotypes represent variable expressivity and may be eviden t in infancy.