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Case Reports
. 1987 Jan;71(1):29-31.
doi: 10.1136/bjo.71.1.29.

A corneal abnormality associated with trisomy 8 mosaicism syndrome

D J Stark, D W Gilmore, J C Vance, J H Pearn
Case Reports

A corneal abnormality associated with trisomy 8 mosaicism syndrome

D J Stark et al. Br J Ophthalmol. 1987 Jan.

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.

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