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Published 2 February 2009
Cite this as: BMJ Case Reports 2009 [doi:10.1136/bcr.09.2008.0877]
Copyright © 2009 by the BMJ Publishing Group Ltd.

Findings that shed new light on the possible pathogenesis of a disease or an adverse effect

Keratoconus associated with CSNB1

Dan Nguyen1, Chris Hemmerdinger2, Richard Hagan3, Malcolm Brown3, Say Aun Quah2, Stephen Kaye2

1 Bristol Eye Hospital, Lower Maudlin Street, Bristol, BS1 2LX, UK
2 St Paul’s Eye Unit, Royal Liverpool University Hospital, Liverpool, L7 8XP, UK
3 Department of Clinical Engineering, Royal Liverpool University Hospital, Liverpool, L7 8XP, UK

Correspondence to:
danqbnguyen{at}hotmail.com

SUMMARY

A 35-year-old man with best corrected visual acuities of –18.00/+10.00x180 (6/60) OD and –10.00/+8.00x5 (6/36) OS. Bilateral steep central corneal thinning, paracentral ectasia and Vogts striae were present; normal fundi. Corneal topography disclosed 7.4 dioptres of irregular astigmatism in the central 3 mm with thinning (335 µm). Electroretinography (ERG) showed no response. There were no medical or environmental influences for his keratoconus. Occurrence of keratoconus and CSNB in the patient may represent a chance association, but keratoconus has not been previously linked with CSNB1 either as a chance or true association though both show genetic predisposition.


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