Autosomal-dominant anomalies of the iris pigment epithelium.
OBJECTIVE
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.
Lee
B L
BL
Department of Ophthalmology, Jules Stein Eye Institute, UCLA School of Medicine, USA.
Lanier
A B
AB
Bateman
J B
JB
D003560:Cysts / Q000235:genetics* / Q000473:pathology; D015785:Eye Diseases, Hereditary / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D007499:Iris Diseases / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010857:Pigment Epithelium of Eye / Q000002:abnormalities* / Q000473:pathology