Case Report: 49, XXXXY syndrome and high myopia |
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Authors: | Farhan Qureshi Geetha Thurairajan |
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Affiliation: | Department of Ophthalmology, Worcester Royal Infirmary, Charles Hastings Way, Worcester, UK. farhanqureshi101@hotmail.com |
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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. |
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Keywords: | intellectual disability myopia refraction |
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