title: Iris transillumination and variable expression in ectopia lentis et pupillae.
abstract: Six children in three families showed variations of the rare genetic syndrome, ectopia lentis et pupillae. The siblings in two affected families demonstrated intermingling of simple lens ectopia with ectopia lentis et pupillae, suggesting that some types of simple ectopia lentis represent an incompletely expressed form of the full ectopia lentis et pupillae syndrome. Those patients with simple lens ectopia as well as those with ectopic lenses and pupils had striking transillumination of the iris periphery. Microphakia, cataract, and other anterior segment abnormalities were also observed.
mesh_terms: D002648:Child; D005260:Female; D006801:Humans; D007223:Infant; D007498:Iris / Q000002:abnormalities / Q000473:pathology; D007908:Lens, Crystalline / Q000002:abnormalities* / Q000473:pathology; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014172:Transillumination; D014603:Uveal Diseases / Q000209:etiology / Q000235:genetics