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Autosomal-dominant anomalies of the iris pigment epithelium
B L Lee1, A B Lanier, J B Bateman
1Department of Ophthalmology, Jules Stein Eye Institute, UCLA School of Medicine, USA.
Purpose:
The authors document two families in which anomalies of the iris pigment epithelium occur as an autosomal dominant trait.
Methods:
Eyes of members of two families were examined for the presence of anomalies of the iris pigment epithelium.
Results:
In both families, anomalies characterized by iris pigment epithelial cysts and peripupillary ruffles were observed in successive generations. In one family, the proband was 3 months of age, and both cysts and ruffles were present in affected individuals.
Conclusions:
Anomalies of the iris pigment epithelium can be inherited in an autosomal-dominant pattern. The cystic and ruffled phenotypes represent variable expressivity and may be evident in infancy.