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Retinal dysfunction and high myopia in association with 48,XXYY syndrome.

Authors
  • Karampelas, Michael
  • Gardner, Jessica
  • Holder, Graham
  • Hardcastle, Alison
  • Webster, Andrew
Type
Published Article
Journal
Documenta ophthalmologica. Advances in ophthalmology
Publication Date
Dec 01, 2013
Volume
127
Issue
3
Pages
245–247
Identifiers
DOI: 10.1007/s10633-013-9406-x
PMID: 24048723
Source
Medline
License
Unknown

Abstract

The present report is the first to describe retinal dysfunction and high myopia with 48,XXYY syndrome. The severe macular and generalised retinal dysfunction in this case are not those associated with myopia and are in keeping with a primary retinal dysfunction. A coincidental finding cannot be excluded, but ERGs have not previously been reported in 48,XXYY syndrome, and retinal dystrophy may be a previously undiagnosed component of this syndrome.

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