Case report: 49, XXXXY syndrome and high myopia

Ophthalmic Physiol Opt. 2007 Sep;27(5):500-1. doi: 10.1111/j.1475-1313.2007.00502.x.


49, XXXXY karyotype syndrome has been thought of as a variant of Klinefelter's syndrome. It has an incidence of between 1/85 000 to 1/100 000 live births. Typical clinical features include coarse faces, skeletal abnormalities, hypogenitalism and severe learning difficulties. Common ocular features include hypertelorism, epicanthic folds and up-slanting palpebral apertures. Here we report a case of high myopia and its successful correction leading to a positive personality change in one such patient. We advocate full ophthalmic examination, under anaesthesia if necessary, and a trial of refractive correction, even in children thought unlikely to tolerate such.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Eyeglasses / statistics & numerical data*
  • Humans
  • Intellectual Disability / etiology*
  • Karyotyping
  • Klinefelter Syndrome / complications*
  • Male
  • Myopia / etiology
  • Myopia / therapy*
  • Patient Satisfaction
  • Treatment Outcome