Intraocular pathology of trisomy 18 (Edwards's syndrome): report of a case and review of the literature.
The ophthalmic histopathology is detailed in a case of trisomy 18 (Edwards's syndrome). In addition to the ocular pathology already reported, previously unreported findings of iris stromal hypoplasia, abnormal lens shape, and decreased ganglion cells in the retina are noted. The ophthalmic histopathology associated with this syndrome and the relationship of several genetic disorders to their ocular manifestations are discussed.
D000867:Anterior Chamber / Q000473:pathology; D002869:Chromosome Aberrations / Q000473:pathology*; D025063:Chromosome Disorders; D002902:Chromosomes, Human, 16-18; D005123:Eye / Q000473:pathology*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007498:Iris / Q000473:pathology; D007621:Karyotyping; D012160:Retina / Q000473:pathology; D013577:Syndrome; D014314:Trisomy