Article Text

Findings that shed new light on the possible pathogenesis of a disease or an adverse effect
Keratoconus associated with CSNB1
  1. Dan Nguyen1,
  2. Chris Hemmerdinger2,
  3. Richard Hagan3,
  4. Malcolm Brown3,
  5. Say Aun Quah2,
  6. Stephen Kaye2
  1. 1
    Bristol Eye Hospital, Lower Maudlin Street, Bristol, BS1 2LX, UK
  2. 2
    St Paul’s Eye Unit, Royal Liverpool University Hospital, Liverpool, L7 8XP, UK
  3. 3
    Department of Clinical Engineering, Royal Liverpool University Hospital, Liverpool, L7 8XP, UK
  1. danqbnguyen{at}


A 35-year-old man with best corrected visual acuities of −18.00/+10.00×180 (6/60) OD and −10.00/+8.00×5 (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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  • Competing interests: None.