A corneal abnormality associated with trisomy 8 mosaicism syndrome.

Abstract

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.

• Authors: D J Stark, D W Gilmore, J C Vance, J H Pearn
• Journal: The British journal of ophthalmology (Br J Ophthalmol) Vol. 71 Issue 1 Pg. 29-31 (Jan 1987) ISSN: 0007-1161 [Print] England
• PMID: 3814568 (Publication Type: Case Reports, Journal Article)

Topics

• Chromosomes, Human, Pair 8
• Cornea (pathology)
• Corneal Opacity (genetics, pathology, surgery)
• Humans
• Infant
• Male
• Mosaicism
• Syndrome
• Trisomy