Persistent pupillary membrane associated with aniridia.
Familial aniridia is an autosomal dominant condition in which only a small iris remnant is present. A controversy exists as to whether the pathogenetic, embryologic origin of this condition is neuroectodermal or mesodermal. We examined a male infant with bilateral congenital aniridia associated with persistent pupillary membranes. This child had a prominent arcade of vessels extending onto the anterior lens surface for 360 degrees from small iris remnants in both eyes. The presence of a mesodermal pupillary membrane despite absence of the iris suggested a primary neuroectodermal defect as the pathogenetic factor in this case of aniridia.
D000328:Adult; D000013:Congenital Abnormalities / Q000235:genetics* / Q000473:pathology; D003320:Corneal Ulcer / Q000150:complications / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007498:Iris / Q000002:abnormalities* / Q000196:embryology / Q000473:pathology; D008297:Male; D008566:Membranes / Q000473:pathology; D008875:Middle Aged; D011247:Pregnancy