Bilateral renal agenesis with multiple congenital ocular anomalies.
A 920-g male infant born with features of Potter's syndrome had multiple ocular anomalies. Ocular abnormalities included absence of keratocytes in the inner central corneal stroma, cataract with retention of cell nuclei in the nucleus of the lens, hypoplasia of the ganglion cell and nerve fiber layers of the retina, and absence of nerve bundles in the optic nerve. Other ocular findings including microphthalmos, fetal chamber angle, persistent pupillary membrane , retinal avascularity, and prominent Bergmeister's papilla may have been related to the prematurity of the child.
D000015:Abnormalities, Multiple / Q000473:pathology*; D000867:Anterior Chamber / Q000473:pathology; D002386:Cataract / Q000473:pathology; D003315:Cornea / Q000002:abnormalities / Q000473:pathology; D005124:Eye Abnormalities; D006801:Humans; D007231:Infant, Newborn; D007236:Infant, Small for Gestational Age; D007498:Iris / Q000002:abnormalities; D007668:Kidney / Q000002:abnormalities*; D007908:Lens, Crystalline / Q000473:pathology; D008297:Male; D009900:Optic Nerve / Q000002:abnormalities; D012160:Retina / Q000002:abnormalities / Q000473:pathology; D014129:Trabecular Meshwork / Q000002:abnormalities; D014822:Vitreous Body / Q000473:pathology