title: Case report: 49, XXXXY syndrome and high myopia.
abstract: 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.
authors: Department of Ophthalmology, Worcester Royal Infirmary, Charles Hastings Way, Worcester, UK. farhanqureshi101@hotmail.com
authors: Farhan
authors: F
authors: Qureshi
authors: Geetha
authors: G
authors: Thurairajan
mesh_terms: D002648:Child; D005139:Eyeglasses / Q000706:statistics & numerical data*; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology*; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000150:complications*; D008297:Male; D009216:Myopia / Q000209:etiology / Q000628:therapy*; D017060:Patient Satisfaction; D016896:Treatment Outcome