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Keratoconus associated with CSNB1
  1. D Q Nguyen1,
  2. C Hemmerdinger1,
  3. R P Hagan2,
  4. M C Brown2,
  5. S A Quah3,
  6. S B Kaye3
  1. 1St Paul’s Eye Unit, Department of Ophthalmology, Royal Liverpool University Hospital, Liverpool, UK
  2. 2Department of Clinical Engineering, Royal Liverpool University Hospital, Liverpool, UK
  3. 3St Paul’s Eye Unit, Department of Ophthalmology, Royal Liverpool University Hospital, Liverpool, UK
  1. Correspondence to: Dan Nguyen Department of Ophthalmology, Royal United Hospital Bath, Combe Park, Bath BA1 3NG, UK; danqbnguyen{at}hotmail.com

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A 35-year-old man was referred with progressive impairment of vision. He was previously diagnosed with anisometropic amblyobia and registered partially sighted. He had lifelong problems of night vision and described a family pedigree suggestive of X-linked inheritance, with two generations of male members affected with nyctalopia and high myopia. No male-to-male transmission occurred and female relatives were unaffected. Family members could not be contacted.

Refraction showed distorted retinsocopy reflexes, with best corrected visual acuities of −18.00/+10.00 ×180 (6/60) OD and −10.00/+8.00 ×5 (6/36) OS. …

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