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BMJ Case Reports 2009; doi:10.1136/bcr.10.2008.1163
  • Rare disease

The enhanced S-cone syndrome in children

  1. Arif O Khan1,
  2. Mohammad Aldahmesh2,
  3. Brian Meyer2
  1. 1
    Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
  2. 2
    Aragene Project, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
  1. A O Khan, arif.khan{at}mssm.edu
  • Published 8 May 2009

Summary

The enhanced S-cone syndrome (ESCS), a rare retinal degenerative disease often associated with NR2E3 mutation, is due to increased numbers of S-cones at the expense of other photoreceptors or miswiring distal to the photoreceptors. Paediatric ESCS and its differing clinical features (as opposed to adult ESCS) is the subject of this report.

Footnotes

  • Competing interests: none.

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