Multiple congenital ocular anomalies with bilateral agenesis of the urinary tract.
A 1,350 gm female infant with features of the Potter syndrome (dysplasia renofacialis) had multiple ocular anomalies. Absence of keratocytes in the central corneal stroma, cataract, retinal ganglion cell and nerve fiber hypoplasia, loss of optic nerve bundles, and angiomatoid proliferation in the area of the optic disc are most striking. Some of these findings, especially in the cornea, may reflect mesoectodermal dysgenesis. Abnormal ocular angiogenesis may well comprise a part of Potter's syndrome.
D000328:Adult; D002386:Cataract / Q000150:complications; D003315:Cornea / Q000002:abnormalities / Q000473:pathology / Q000648:ultrastructure; D005123:Eye / Q000473:pathology; D005124:Eye Abnormalities; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D009900:Optic Nerve / Q000002:abnormalities; D011247:Pregnancy; D012160:Retina / Q000002:abnormalities; D013577:Syndrome; D014551:Urinary Tract / Q000002:abnormalities*