Megalocornea in nonketotic hyperglycinemia.
A nine-month-old girl with nonketotic hyperglycinemia and bilateral enlargement of the corneas is reported. There was no evidence of elevated intraocular pressure or iridocorneal angle anomalies. The corneas have remained clear and lusterous without tears in Descemet's membrane. The possibility that the elevated glycine level may play a part in the buphthalmia of this patient is discussed in light of what is known about the effect or excessive dietary glycine on the developing chick eye. Further ophthalmologic study of patients with various forms of glycinemia might provide further understanding of the ways in which the developing eye may enlarge.
D000818:Animals; D002642:Chick Embryo; D003315:Cornea / Q000002:abnormalities*; D004569:Electroencephalography; D005247:Feeding Behavior; D005260:Female; D005998:Glycine / Q000097:blood* / Q000652:urine; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications; D007429:Intraocular Pressure; D008297:Male; D009468:Neuromuscular Diseases / Q000150:complications; D012640:Seizures / Q000150:complications
D005998:Glycine