A corneal abnormality associated with trisomy 8 mosaicism syndrome.
Eye abnormalities are a significant feature of trisomy 8 mosaicism syndrome. This paper gives the first account of the specific histopathology of a corneal opacity which is characteristic of this syndrome. The importance of early recognition is stressed because of potential therapeutic visual improvement. The necessity of including mosaic trisomy 8 in the differential diagnosis of such corneal opacities is illustrated by this case.
D002898:Chromosomes, Human, Pair 8; D003315:Cornea / Q000473:pathology; D003318:Corneal Opacity / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D006801:Humans; D007223:Infant; D008297:Male; D009030:Mosaicism; D013577:Syndrome; D014314:Trisomy